F47L (p.Phe47Leu) variant of ATP6V0A4 (Q9HBG4)
F47L (p.Phe47Leu) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- gnomAD rs1437068237
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.73
- CADD 28.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available