A35V (p.Ala35Val) variant of ATP6V1A (P38606)
A35V (p.Ala35Val) 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 0.49 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- rs367827756
- ClinGen CA81618795
- ClinVar RCV003821183
- ClinVar RCV005934984
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.31
- SIFT 0.16
- 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