R91Q (p.Arg91Gln) variant of ATP6V0A4 (Q9HBG4)
R91Q (p.Arg91Gln) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R91Q (p.Arg91Gln) variant details
- p.Arg91Gln
- cosmic curated COSV10518
- TOPMed rs942093055
- gnomAD rs942093055
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.69
- ESM-1b 0.84
- AlphaMissense 0.22
- MetaLR 0.76
- MetaSVM 0.57
- CADD 29.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available