Is AUH p.Val164Glu (c.491T>A) pathogenic?

AUH p.Val164Glu (c.491T>A) is classified Likely pathogenic in AUH (ClinVar, No assertion criteria, 1 submitter; last evaluated 2021-04-18). AlphaMissense: likely pathogenic (0.7379); Absent from gnomAD v4.1.

How common is AUH p.Val164Glu (c.491T>A) in the general population?

AUH p.Val164Glu (c.491T>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AUH p.Val164Glu (c.491T>A)?

AlphaMissense predicts likely pathogenic (score 0.7379) — an in-silico prediction, not a clinical call.

AUH p.Val164Glu

c.491T>A · rs2538068814 · VCV2664514

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.7379 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.7379	likely pathogenic ✓ concordant with ClinVar
REVEL	0.544	indeterminate
SaProt	LLR -13.59	damaging
⇒ AlphaMissense and SaProt both call this damaging; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 8.9	GERP 0.71, phastCons 1
Regional constraint	o/e 1.03	unconstrained · MANE · 148 kb · p 0.51 · regional, not allelic
Overall
CADD	23.6	PHRED · no single calibrated threshold — expert panels disagree

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: AUH
Protein: p.Val164Glu
Coding: c.491T>A
MANE Select: NM_001698
dbSNP: rs2538068814
Type: single nucleotide variant
Location: chr9:91325332 (GRCh38)
Gene constraint: LOEUF 0.994 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.63 · 3 PDB
Residue 164: an α-helix

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

Similar variants

AUH p.Val164Ala Uncertain significance ★ ⚠ same residue
AUH c.505+1G>C Pathogenic/Likely pathogenic ★★ same type
AUH p.Ala240Val Likely pathogenic ★★ same type
AUH p.Arg197Ter Pathogenic ★★ same type
AUH p.Arg241Ter Pathogenic/Likely pathogenic ★★ same type
AUH p.Trp50Ter Likely pathogenic ★★ same type
AUH c.655+3A>C Uncertain significance ★★ same type
AUH p.Ala117Val 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/auh-p-val164glu (accessed [today's date]).

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