V73M (p.Val73Met) variant of ATP6V1A (P38606)
V73M (p.Val73Met) 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 0.34 / 1. The record also includes structural context.
V73M (p.Val73Met) variant details
- p.Val73Met
- rs981146211
- ClinGen CA354006962
- ClinVar RCV002512231
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.34
- MetaLR 0.23
- MetaSVM -0.70
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available