I235T (p.Ile235Thr) variant of BTD (Biotinidase)
I235T (p.Ile235Thr) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I235T (p.Ile235Thr) variant details
- p.Ile235Thr
- rs397514384
- ClinGen CA278258
- ClinVar RCV000021962
- ExAC rs397514384
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.53
- CADD 19.80
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Likely pathogenic (Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)