S5P (p.Ser5Pro) variant of GNA11 (P29992)
S5P (p.Ser5Pro) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 19-3094664-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.45
- CADD 24.00
- PolyPhen-2 0.70
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available