C17Y (p.Cys17Tyr) variant of ATP6V1B1 (P15313)
C17Y (p.Cys17Tyr) in ATP6V1B1 (P15313) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- rs782793493
- ExAC rs782793493
- TOPMed rs782793493
- gnomAD rs782793493
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.16
- CADD 8.73
- PolyPhen-2 0.01
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.1e-05)
- Structural context available