L3V (p.Leu3Val) variant of GNA11 (P29992)
L3V (p.Leu3Val) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD 19-3094658-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available