Is ABITRAM p.Val145Ile (c.433G>A) pathogenic?

ABITRAM p.Val145Ile (c.433G>A) is classified Uncertain significance in ABITRAM (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-26). AlphaMissense: likely benign (0.1418); Absent from gnomAD v4.1.

How common is ABITRAM p.Val145Ile (c.433G>A) in the general population?

ABITRAM p.Val145Ile (c.433G>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ABITRAM p.Val145Ile (c.433G>A)?

AlphaMissense predicts likely benign (score 0.1418) — an in-silico prediction, not a clinical call.

ABITRAM p.Val145Ile

c.433G>A · VCV3435204

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1418 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1418	likely benign
REVEL	0.192	benign-leaning
SaProt	LLR -3.02	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.9	GERP 2, phastCons 1
Regional constraint	o/e 0.98	unconstrained · MANE · 5,196 bp · p 0.73 · regional, not allelic
Overall
CADD	23.6	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

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ABITRAM
Protein: p.Val145Ile
Coding: c.433G>A
MANE Select: NM_017832
Type: single nucleotide variant
Location: chr9:108939573 (GRCh38)
Gene constraint: LOEUF 1.175 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.21

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

Similar variants

ABITRAM p.Ala2Val Uncertain significance ★ ⚠ same type
ABITRAM p.Arg173His Uncertain significance ★ ⚠ same type
ABITRAM p.Arg22His Uncertain significance ★ ⚠ same type
ABITRAM p.Arg87Gln Uncertain significance ★ ⚠ same type
ABITRAM p.Arg87Trp Uncertain significance ★ ⚠ same type
ABITRAM p.Gln163Arg Uncertain significance ★ ⚠ same type
ABITRAM p.Gly106Asp Uncertain significance ★ ⚠ same type
ABITRAM p.Gly141Val Uncertain significance ★ ⚠ same type

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/abitram-p-val145ile (accessed [today's date]).

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