M7L (p.Met7Leu) variant of GNA11 (P29992)
M7L (p.Met7Leu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M7L (p.Met7Leu) variant details
- p.Met7Leu
- gnomAD 19-3094670-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available