A4S (p.Ala4Ser) variant of BTD (Biotinidase)
A4S (p.Ala4Ser) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs776094195
- gnomAD 3-15601854-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available