M1V (p.Met1Val) variant of BTD (Biotinidase)
M1V (p.Met1Val) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- gnomAD 3-15631479-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available