A4V (p.Ala4Val) variant of BTD (Biotinidase)
A4V (p.Ala4Val) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 3-15601861-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 16.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available