G425V (p.Gly425Val) variant of BTD (Biotinidase)
G425V (p.Gly425Val) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G425V (p.Gly425Val) variant details
- p.Gly425Val
- rs397514402
- ClinGen CA278330
- ClinVar RCV000022007
- ClinVar RCV000985644
- Conflicting interpretations
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.83
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: 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)