S18A (p.Ser18Ala) variant of GNA11 (P29992)
S18A (p.Ser18Ala) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S18A (p.Ser18Ala) variant details
- p.Ser18Ala
- gnomAD 19-3094703-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.23
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available