T275P (p.Thr275Pro) variant of ATP6V1B1 (P15313)
T275P (p.Thr275Pro) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T275P (p.Thr275Pro) variant details
- p.Thr275Pro
- rs1161604514
- ClinGen CA347184733
- ClinVar RCV003554934
- ClinVar RCV005030108
- Pathogenic/Likely pathogenic
- not provided; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Renal tubular acidosis with progressive nerve deaf)
- EBI: Pathogenic (in DRTA2)
- UniProt: Pathogenic (in DRTA2)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for… (PMID 12414817)
- Cited in: Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly… (PMID 16769747)