A23V (p.Ala23Val) variant of GNA11 (P29992)
A23V (p.Ala23Val) in GNA11 (P29992) 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, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD 19-3094719-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available