D147N (p.Asp147Asn) variant of ATP6V0A4 (Q9HBG4)
D147N (p.Asp147Asn) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D147N (p.Asp147Asn) variant details
- p.Asp147Asn
- ExAC rs761968599
- TOPMed rs761968599
- gnomAD rs761968599
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.43
- MetaSVM -0.47
- CADD 23.60
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available