S28T (p.Ser28Thr) variant of BTD (Biotinidase)
S28T (p.Ser28Thr) 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 and structural context.
S28T (p.Ser28Thr) variant details
- p.Ser28Thr
- gnomAD rs1173924570
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.28
- CADD 4.35
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available