L8P (p.Leu8Pro) variant of BTD (Biotinidase)
L8P (p.Leu8Pro) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- rs928220347
- gnomAD 3-15631468-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.19
- CADD 9.72
- Population evidence available
- Structural context available
- Literature evidence available