V42M (p.Val42Met) variant of BTD (Biotinidase)
V42M (p.Val42Met) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BTD-related disorder; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V42M (p.Val42Met) variant details
- p.Val42Met
- rs397507170
- ClinGen CA278152
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Pathogenic/Likely pathogenic
- BTD-related disorder; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.80
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BTD-related disorder; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)