C13C (p.Cys13Cys) variant of BTD (Biotinidase)
C13C (p.Cys13Cys) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
C13C (p.Cys13Cys) variant details
- p.Cys13Cys
- rs201564216
- gnomAD 3-15635478-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.43
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Literature evidence available