L42M (p.Leu42Met) variant of GNA11 (P29992)
L42M (p.Leu42Met) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L42M (p.Leu42Met) variant details
- p.Leu42Met
- gnomAD 19-3094775-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.62
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available