D35V (p.Asp35Val) variant of GNA11 (P29992)
D35V (p.Asp35Val) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D35V (p.Asp35Val) variant details
- p.Asp35Val
- gnomAD 19-3094755-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.67
- CADD 25.30
- PolyPhen-2 0.62
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available