Y38H (p.Tyr38His) variant of BTD (Biotinidase)
Y38H (p.Tyr38His) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- gnomAD 3-15635551-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.74
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available