R5C (p.Arg5Cys) variant of BTD (Biotinidase)
R5C (p.Arg5Cys) in BTD (Biotinidase) is a missense 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.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- gnomAD 3-15601881-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.38
- CADD 9.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available