E4Q (p.Glu4Gln) variant of GNA11 (P29992)
E4Q (p.Glu4Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- Ensembl rs2145300242
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.30
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.75
- CADD 22.90
- PolyPhen-2 0.00
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available