S47C (p.Ser47Cys) variant of BTD (Biotinidase)
S47C (p.Ser47Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
S47C (p.Ser47Cys) variant details
- p.Ser47Cys
- rs747489101
- NCI-TCGA Cosmic COSV5772
- cosmic curated COSV57729
- ExAC rs747489101
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.40
- CADD 18.40
- PolyPhen-2 0.52
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available