R5I (p.Arg5Ile) variant of BTD (Biotinidase)
R5I (p.Arg5Ile) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R5I (p.Arg5Ile) variant details
- p.Arg5Ile
- rs2471438647
- ClinGen CA351602750
- ClinVar RCV003602517
- Uncertain significance
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Biotinidase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)