A22V (p.Ala22Val) variant of BTD (Biotinidase)
A22V (p.Ala22Val) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 3-15635504-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.35
- CADD 1.33
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available