S12G (p.Ser12Gly) variant of GNA11 (P29992)
S12G (p.Ser12Gly) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- Ensembl rs2145300305
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.44
- CADD 24.60
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available