A22A (p.Ala22Ala) variant of BTD (Biotinidase)
A22A (p.Ala22Ala) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs768786550
- gnomAD 3-15635505-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 8.77
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available