H23N (p.His23Asn) variant of BTD (Biotinidase)
H23N (p.His23Asn) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H23N (p.His23Asn) variant details
- p.His23Asn
- rs1254275322
- gnomAD 3-15601857-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- CADD 12.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available