A30T (p.Ala30Thr) variant of BTD (Biotinidase)
A30T (p.Ala30Thr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- rs756051380
- gnomAD 3-15635527-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.26
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available