A9S (p.Ala9Ser) variant of BTD (Biotinidase)
A9S (p.Ala9Ser) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- rs1348745452
- gnomAD 3-15601884-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.20
- CADD 6.34
- Population evidence available
- Structural context available
- Literature evidence available