K41N (p.Lys41Asn) variant of GNA11 (P29992)
K41N (p.Lys41Asn) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K41N (p.Lys41Asn) variant details
- p.Lys41Asn
- gnomAD 19-3094774-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.69
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available