K41Q (p.Lys41Gln) variant of GNA11 (P29992)
K41Q (p.Lys41Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K41Q (p.Lys41Gln) variant details
- p.Lys41Gln
- gnomAD 19-3094772-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.86
- CADD 29.30
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available