E39Q (p.Glu39Gln) variant of GNA11 (P29992)
E39Q (p.Glu39Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- Ensembl rs2145300421
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.64
- AlphaMissense 0.93
- MetaLR 0.53
- MetaSVM -0.04
- CADD 25.50
- PolyPhen-2 0.85
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available