R5R (p.Arg5Arg) variant of BTD (Biotinidase)
R5R (p.Arg5Arg) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 3-15601883-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.87
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available