S120N (p.Ser120Asn) variant of ATP6V0A4 (Q9HBG4)
S120N (p.Ser120Asn) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S120N (p.Ser120Asn) variant details
- p.Ser120Asn
- gnomAD rs1284386310
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.83
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available