S5C (p.Ser5Cys) variant of GNA11 (P29992)
S5C (p.Ser5Cys) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 19-3094665-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.49
- CADD 24.60
- PolyPhen-2 0.87
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available