I48I (p.Ile48Ile) variant of BTD (Biotinidase)
I48I (p.Ile48Ile) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- rs1385046880
- gnomAD 3-15635439-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available