D411Y (p.Asp411Tyr) variant of ATP6V0A4 (Q9HBG4)
D411Y (p.Asp411Tyr) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
D411Y (p.Asp411Tyr) variant details
- p.Asp411Tyr
- rs763982675
- ClinGen CA4504840
- ClinVar RCV000442300
- ClinVar RCV000763163
- Pathogenic/Likely pathogenic
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)