N52S (p.Asn52Ser) variant of BTD (Biotinidase)
N52S (p.Asn52Ser) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- ExAC rs773436040
- gnomAD rs773436040
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.25
- CADD 13.60
- PolyPhen-2 0.08
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available