M1L (p.Met1Leu) variant of BTD (Biotinidase)
M1L (p.Met1Leu) 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.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1296590454
- gnomAD 3-15631479-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available