Q108R (p.Gln108Arg) variant of ATP6V0A4 (Q9HBG4)
Q108R (p.Gln108Arg) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q108R (p.Gln108Arg) variant details
- p.Gln108Arg
- gnomAD rs1189914823
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.64
- CADD 17.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available