A5S (p.Ala5Ser) variant of ERBB2 (P04626)
A5S (p.Ala5Ser) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 17-39700251-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.31
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available