S5A (p.Ser5Ala) variant of GNA11 (P29992)
S5A (p.Ser5Ala) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- Ensembl rs2145300250
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- CADD 21.50
- PolyPhen-2 0.13
- SIFT 0.29
- Population evidence available
- Structural context available