M42I (p.Met42Ile) variant of ATP6V0A4 (Q9HBG4)
M42I (p.Met42Ile) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
M42I (p.Met42Ile) variant details
- p.Met42Ile
- TOPMed rs1186714141
- gnomAD rs1186714141
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.36
- MetaSVM -0.67
- CADD 17.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available