L42V (p.Leu42Val) variant of GNA11 (P29992)
L42V (p.Leu42Val) 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 and structural context.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- TOPMed rs1342252945
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.49
- CADD 24.10
- PolyPhen-2 0.26
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available