Q73R (p.Gln73Arg) variant of ATP6V0A4 (Q9HBG4)
Q73R (p.Gln73Arg) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q73R (p.Gln73Arg) variant details
- p.Gln73Arg
- gnomAD rs1302537397
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.32
- MetaSVM -0.82
- CADD 19.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available