V39A (p.Val39Ala) variant of BTD (Biotinidase)
V39A (p.Val39Ala) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- TOPMed rs1312159836
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.46
- CADD 18.60
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available