H32R (p.His32Arg) variant of BTD (Biotinidase)
H32R (p.His32Arg) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- gnomAD 3-15635534-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.20
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available