Y41* (p.Tyr41Ter) variant of ATP6V1B1 (P15313)
Y41* (p.Tyr41Ter) in ATP6V1B1 (P15313) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y41* (p.Tyr41Ter) variant details
- p.Tyr41Ter
- rs782151715
- ClinGen CA347178458
- ClinVar RCV002007589
- ClinVar RCV005025515
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)