Y38F (p.Tyr38Phe) variant of BTD (Biotinidase)
Y38F (p.Tyr38Phe) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y38F (p.Tyr38Phe) variant details
- p.Tyr38Phe
- gnomAD 3-15635552-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.40
- CADD 14.30
- PolyPhen-2 0.06
- SIFT 0.97
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available