R5del (p.Arg5del) variant of BTD (Biotinidase)
R5del (p.Arg5del) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R5del (p.Arg5del) variant details
- gnomAD 3-15635451-CAGA-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 17.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available