L3Q (p.Leu3Gln) variant of GNA11 (P29992)
L3Q (p.Leu3Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L3Q (p.Leu3Gln) variant details
- p.Leu3Gln
- gnomAD 19-3094659-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.45
- CADD 26.30
- PolyPhen-2 0.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available