K16R (p.Lys16Arg) variant of GNA11 (P29992)
K16R (p.Lys16Arg) in GNA11 (P29992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- gnomAD 19-3094696-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available