S28N (p.Ser28Asn) variant of BTD (Biotinidase)
S28N (p.Ser28Asn) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD 3-15635522-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.17
- CADD 5.39
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available