I21V (p.Ile21Val) variant of GNA11 (P29992)
I21V (p.Ile21Val) in GNA11 (P29992) 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.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- gnomAD 19-3094712-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.36
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available