V17M (p.Val17Met) variant of BTD (Biotinidase)
V17M (p.Val17Met) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; BTD-related disorder; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- rs772369148
- ClinGen CA2277242
- ClinVar RCV001950099
- ClinVar RCV002561398
- Uncertain significance
- Inborn genetic diseases; BTD-related disorder; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; BTD-related disorder; Biotinidase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)