A14V (p.Ala14Val) variant of ERBB2 (P04626)
A14V (p.Ala14Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs1293505485
- ClinGen CA399266607
- ClinVar RCV003110218
- gnomAD rs1293505485
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.15
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available