C13Y (p.Cys13Tyr) variant of BTD (Biotinidase)
C13Y (p.Cys13Tyr) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
C13Y (p.Cys13Tyr) variant details
- p.Cys13Tyr
- 1000Genomes rs141131444
- ESP rs141131444
- ExAC rs141131444
- TOPMed rs141131444
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.28
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available