S18Y (p.Ser18Tyr) variant of GNA11 (P29992)
S18Y (p.Ser18Tyr) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- gnomAD 19-3094704-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.51
- CADD 24.60
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available