A8V (p.Ala8Val) variant of GNA11 (P29992)
A8V (p.Ala8Val) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs141078172
- ClinGen CA9074691
- ClinVar RCV001934609
- ESP rs141078172
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available