S6C (p.Ser6Cys) variant of BTD (Biotinidase)
S6C (p.Ser6Cys) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- gnomAD 3-15601890-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.32
- CADD 2.72
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available