P46S (p.Pro46Ser) variant of BTD (Biotinidase)
P46S (p.Pro46Ser) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- gnomAD 3-15635575-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.29
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available