L49P (p.Leu49Pro) variant of BTD (Biotinidase)
L49P (p.Leu49Pro) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- TOPMed rs2065325318
- gnomAD rs2065325318
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.77
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available