L29I (p.Leu29Ile) variant of ATP6V0A4 (Q9HBG4)
L29I (p.Leu29Ile) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L29I (p.Leu29Ile) variant details
- p.Leu29Ile
- ExAC rs767136907
- gnomAD rs767136907
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.89
- MetaSVM 0.93
- CADD 25.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available