R20Q (p.Arg20Gln) variant of GNA11 (P29992)
R20Q (p.Arg20Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- gnomAD 19-3094710-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.45
- CADD 23.60
- PolyPhen-2 0.38
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available