R31Q (p.Arg31Gln) variant of GNA11 (P29992)
R31Q (p.Arg31Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- gnomAD 19-3094743-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.31
- AlphaMissense 0.85
- MetaLR 0.76
- MetaSVM 0.70
- CADD 23.80
- PolyPhen-2 0.93
- Population evidence available
- Structural context available
- Literature evidence available