S84R (p.Ser84Arg) variant of ATP6V0A4 (Q9HBG4)
S84R (p.Ser84Arg) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S84R (p.Ser84Arg) variant details
- p.Ser84Arg
- ExAC rs764857690
- TOPMed rs764857690
- gnomAD rs764857690
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.40
- MetaSVM -0.76
- CADD 5.52
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available