L258V (p.Leu258Val) variant of BTD (Biotinidase)
L258V (p.Leu258Val) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L258V (p.Leu258Val) variant details
- p.Leu258Val
- rs397514388
- ClinGen CA278264
- ClinVar RCV000021966
- Ensembl rs397514388
- Pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)