F11S (p.Phe11Ser) variant of BTD (Biotinidase)
F11S (p.Phe11Ser) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- rs2065319089
- gnomAD 3-15635426-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.47
- CADD 22.50
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available