Q27* (p.Gln27Ter) variant of ATP6V1B1 (P15313)
Q27* (p.Gln27Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- rs1288346981
- ClinGen CA347176822
- ClinVar RCV001328240
- ClinVar RCV003558784
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)