T30A (p.Thr30Ala) variant of ATP6V1A (P38606)
T30A (p.Thr30Ala) 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 0.57 / 1. The record also includes population frequency data and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- rs760371089
- ClinGen CA2547757
- ClinVar RCV001311599
- ExAC rs760371089
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.55
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available