L80F (p.Leu80Phe) variant of ATP6V1A (P38606)
L80F (p.Leu80Phe) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L80F (p.Leu80Phe) variant details
- p.Leu80Phe
- TOPMed rs1709013502
- gnomAD rs1709013502
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- AlphaMissense 0.12
- MetaLR 0.29
- MetaSVM -0.48
- CADD 22.70
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available