D147E (p.Asp147Glu) variant of ATP6V0A4 (Q9HBG4)
D147E (p.Asp147Glu) 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.
D147E (p.Asp147Glu) variant details
- p.Asp147Glu
- ExAC rs774988387
- gnomAD rs774988387
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.28
- MetaSVM -0.65
- CADD 15.60
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available