I25V (p.Ile25Val) variant of GNA11 (P29992)
I25V (p.Ile25Val) 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.
I25V (p.Ile25Val) variant details
- p.Ile25Val
- gnomAD 19-3094724-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.66
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available