E8K (p.Glu8Lys) variant of ATP6V0A4 (Q9HBG4)
E8K (p.Glu8Lys) 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 0.86 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs894665573
- NCI-TCGA Cosmic COSV5947
- cosmic curated COSV59474
- TOPMed rs894665573
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.84
- MetaSVM 0.91
- CADD 26.40
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available