S7N (p.Ser7Asn) variant of ATP6V0A4 (Q9HBG4)
S7N (p.Ser7Asn) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- gnomAD rs1378760129
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.94
- MetaSVM 1.10
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available