K16N (p.Lys16Asn) variant of GNA11 (P29992)
K16N (p.Lys16Asn) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- gnomAD 19-3094699-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.50
- CADD 28.20
- PolyPhen-2 0.56
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available