V42L (p.Val42Leu) variant of BTD (Biotinidase)
V42L (p.Val42Leu) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- ExAC rs397507170
- TOPMed rs397507170
- gnomAD rs397507170
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.81
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available