A36V (p.Ala36Val) variant of GNA11 (P29992)
A36V (p.Ala36Val) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- Ensembl rs2145300399
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.45
- AlphaMissense 0.89
- MetaLR 0.83
- MetaSVM 0.71
- CADD 23.00
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available