Q36L (p.Gln36Leu) variant of ATP6V0A4 (Q9HBG4)
Q36L (p.Gln36Leu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Q36L (p.Gln36Leu) variant details
- p.Gln36Leu
- ExAC rs779291979
- gnomAD rs779291979
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.83
- MetaSVM 0.89
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available