G83S (p.Gly83Ser) variant of ATP6V1A (P38606)
G83S (p.Gly83Ser) in ATP6V1A (P38606) 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 0.74 / 1. The record also includes population frequency data and structural context.
G83S (p.Gly83Ser) variant details
- p.Gly83Ser
- rs778615930
- ClinGen CA2547798
- ClinVar RCV001874644
- ExAC rs778615930
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.70
- CADD 28.90
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available