A22G (p.Ala22Gly) variant of BTD (Biotinidase)
A22G (p.Ala22Gly) 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.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- gnomAD 3-15635504-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.33
- CADD 6.78
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available