F817L (p.Phe817Leu) variant of ATP6V0A4 (Q9HBG4)
F817L (p.Phe817Leu) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal recessive distal renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F817L (p.Phe817Leu) variant details
- p.Phe817Leu
- rs934266733
- ClinGen CA167113384
- NCI-TCGA Cosmic COSV5948
- cosmic curated COSV59480
- Likely pathogenic
- not provided; Autosomal recessive distal renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.92
- ESM-1b 0.22
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.04
- CADD 28.20
- ClinVar: Likely pathogenic (not provided; Autosomal recessive distal renal tubular acidosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)