V25A (p.Val25Ala) variant of ERBB2 (P04626)
V25A (p.Val25Ala) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gastric cancer; Visceral neuropathy, familial, 2, autosomal recess. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- rs755921683
- ClinGen CA8533528
- ClinVar RCV002019717
- ClinVar RCV005017041
- Uncertain significance
- not provided; Gastric cancer; Visceral neuropathy, familial, 2, autosomal recess
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Gastric cancer; Visceral neuropathy, familial, 2,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Cited in: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)