L10F (p.Leu10Phe) variant of BTD (Biotinidase)
L10F (p.Leu10Phe) 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 and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- ExAC rs752626624
- TOPMed rs752626624
- gnomAD rs752626624
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.17
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available