T140M (p.Thr140Met) variant of ATP6V0A4 (Q9HBG4)
T140M (p.Thr140Met) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T140M (p.Thr140Met) variant details
- p.Thr140Met
- rs144802156
- ClinGen CA4505129
- cosmic curated COSV59476
- ClinVar RCV000342844
- Conflicting interpretations
- Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.60
- MetaSVM 0.45
- CADD 24.80
- ClinVar: Conflicting classifications of pathogenicity (Renal tubular acidosis, distal, 3, with or without sensorineural)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.013)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)