I48S (p.Ile48Ser) variant of BTD (Biotinidase)
I48S (p.Ile48Ser) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I48S (p.Ile48Ser) variant details
- p.Ile48Ser
- rs1182128650
- gnomAD 3-15635438-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.50
- CADD 16.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available