F137L (p.Phe137Leu) variant of ATP6V0A4 (Q9HBG4)
F137L (p.Phe137Leu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
F137L (p.Phe137Leu) variant details
- p.Phe137Leu
- gnomAD rs1806897651
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.49
- MetaSVM -0.30
- CADD 22.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available