T95S (p.Thr95Ser) variant of ATP6V0A4 (Q9HBG4)
T95S (p.Thr95Ser) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T95S (p.Thr95Ser) variant details
- p.Thr95Ser
- 1000Genomes rs551006652
- ExAC rs551006652
- gnomAD rs551006652
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.34
- MetaSVM -0.71
- CADD 11.80
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available