F148L (p.Phe148Leu) variant of ATP6V0A4 (Q9HBG4)
F148L (p.Phe148Leu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F148L (p.Phe148Leu) variant details
- p.Phe148Leu
- ExAC rs764761203
- gnomAD rs764761203
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.69
- MetaLR 0.30
- MetaSVM -0.64
- CADD 19.70
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available