L29F (p.Leu29Phe) variant of ATP6V0A4 (Q9HBG4)
L29F (p.Leu29Phe) 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 0.80 / 1. The record also includes population frequency data and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- ExAC rs767136907
- gnomAD rs767136907
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available