T35N (p.Thr35Asn) variant of ATP6V1B1 (P15313)
T35N (p.Thr35Asn) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T35N (p.Thr35Asn) variant details
- p.Thr35Asn
- cosmic curated COSV99029
- TOPMed rs1015896794
- gnomAD rs1015896794
- Uncertain significance
- Inborn genetic diseases; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal tubular acidosis with progressive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available