S7R (p.Ser7Arg) variant of ATP6V0A4 (Q9HBG4)
S7R (p.Ser7Arg) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- ExAC rs777850731
- TOPMed rs777850731
- gnomAD rs777850731
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.91
- CADD 9.50
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available