K19R (p.Lys19Arg) variant of GNA11 (P29992)
K19R (p.Lys19Arg) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- gnomAD 19-3094707-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.26
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available