A4P (p.Ala4Pro) variant of BTD (Biotinidase)
A4P (p.Ala4Pro) 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.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- gnomAD 3-15601860-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available