L11R (p.Leu11Arg) variant of GNA11 (P29992)
L11R (p.Leu11Arg) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- gnomAD 19-3094683-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.48
- CADD 25.10
- PolyPhen-2 0.05
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available