N111S (p.Asn111Ser) variant of ATP6V0A4 (Q9HBG4)
N111S (p.Asn111Ser) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N111S (p.Asn111Ser) variant details
- p.Asn111Ser
- TOPMed rs1233844406
- gnomAD rs1233844406
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM -0.10
- CADD 22.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available