A5V (p.Ala5Val) variant of ERBB2 (P04626)
A5V (p.Ala5Val) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- Ensembl rs2145267458
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.06
- Population evidence available
- Structural context available