H32N (p.His32Asn) variant of BTD (Biotinidase)
H32N (p.His32Asn) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H32N (p.His32Asn) variant details
- p.His32Asn
- gnomAD 3-15635533-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.12
- CADD 2.53
- PolyPhen-2 0.01
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available