A8E (p.Ala8Glu) variant of GNA11 (P29992)
A8E (p.Ala8Glu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 19-3094674-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available