V2E (p.Val2Glu) variant of ATP6V0A4 (Q9HBG4)
V2E (p.Val2Glu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- rs10258719
- ClinGen CA369380207
- ClinVar RCV001323520
- ClinVar RCV005038075
- Uncertain significance
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.26
- MetaSVM -0.71
- CADD 22.30
- ClinVar: Uncertain significance (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Benign (in dbSNP:rs10258719)
- UniProt: Benign (in dbSNP:rs10258719)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)