E158D (p.Glu158Asp) variant of ATP6V0A4 (Q9HBG4)
E158D (p.Glu158Asp) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E158D (p.Glu158Asp) variant details
- p.Glu158Asp
- ESP rs141041539
- ExAC rs141041539
- TOPMed rs141041539
- gnomAD rs141041539
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.38
- MetaSVM -0.55
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available