F51L (p.Phe51Leu) variant of ATP6V0A4 (Q9HBG4)
F51L (p.Phe51Leu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- ExAC rs780135307
- gnomAD rs780135307
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.62
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available