A4T (p.Ala4Thr) variant of BTD (Biotinidase)
A4T (p.Ala4Thr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs776094195
- gnomAD 3-15601854-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available