M1T (p.Met1Thr) variant of BTD (Biotinidase)
M1T (p.Met1Thr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2065202491
- gnomAD 3-15631480-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 17.50
- Population evidence available
- Structural context available
- Literature evidence available