G19A (p.Gly19Ala) variant of ATP6V1A (P38606)
G19A (p.Gly19Ala) 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 0.89 / 1. The record also includes structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- rs972975431
- ClinGen CA354003412
- ClinVar RCV003332565
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available