V26A (p.Val26Ala) variant of ATP6V0A4 (Q9HBG4)
V26A (p.Val26Ala) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- rs1444710096
- ClinGen CA369379655
- ClinVar RCV001919045
- ClinVar RCV005031874
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.72
- MetaSVM 0.62
- CADD 25.70
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)