P88L (p.Pro88Leu) variant of ATP6V0A4 (Q9HBG4)
P88L (p.Pro88Leu) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- rs200954029
- ClinGen CA4505188
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59481
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.70
- ESM-1b 0.91
- AlphaMissense 0.36
- MetaLR 0.71
- MetaSVM 0.51
- CADD 26.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available