S28R (p.Ser28Arg) variant of BTD (Biotinidase)
S28R (p.Ser28Arg) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD 3-15635523-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.29
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available