A3V (p.Ala3Val) variant of ERBB3 (P21860)
A3V (p.Ala3Val) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 12-56080308-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.05
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available
- Literature evidence available