Is AVP p.Ala150Ser (c.448G>T) pathogenic?

AVP p.Ala150Ser (c.448G>T) is classified Uncertain significance in AVP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-26). AlphaMissense: likely benign (0.1216); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with AVP p.Ala150Ser (c.448G>T)?

AVP p.Ala150Ser (c.448G>T) is associated with Inborn genetic diseases (ClinVar).

How common is AVP p.Ala150Ser (c.448G>T) in the general population?

AVP p.Ala150Ser (c.448G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AVP p.Ala150Ser (c.448G>T)?

AlphaMissense predicts likely benign (score 0.1216) — an in-silico prediction, not a clinical call.

AVP p.Ala150Ser

c.448G>T · VCV4593697

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1216 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,284,384)

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.1216	likely benign
REVEL	0.342	indeterminate
SaProt	LLR -7.24	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.1	GERP 0.49, phastCons 1
Overall
CADD	18.89	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,284,384). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: AVP
Protein: p.Ala150Ser
Coding: c.448G>T
MANE Select: NM_001243133 · reported on NM_000490
Type: single nucleotide variant
Location: chr20:3082677 (GRCh38)
Structure: AlphaFold pLDDT 81.16 · 27 PDB
Residue 150: a β-strand; the fisna domain

Full AVP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

NLRP3 p.Glu150= Likely benign ★ same residue
AVP p.Gln40Glu Uncertain significance ★★ ⚠ same condition
AVP p.Gly137Trp Uncertain significance ★★ ⚠ same condition
AVP p.Thr112Ile Uncertain significance ★★ ⚠ same condition
NLRP3 p.Ala225Ser Uncertain significance ★★ ⚠ same condition
NLRP3 p.Ala901Pro Uncertain significance ★★ ⚠ same condition
NLRP3 p.Arg548His Uncertain significance ★★ ⚠ same condition
NLRP3 p.Arg5His Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/avp-p-ala150ser (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown