P88Q (p.Pro88Gln) variant of ATP6V0A4 (Q9HBG4)
P88Q (p.Pro88Gln) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P88Q (p.Pro88Gln) variant details
- p.Pro88Gln
- cosmic curated COSV59474
- ESP rs200954029
- ExAC rs200954029
- TOPMed rs200954029
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.79
- MetaSVM 0.73
- CADD 26.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available