A269V (p.Ala269Val) variant of BTD (Biotinidase)
A269V (p.Ala269Val) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A269V (p.Ala269Val) variant details
- p.Ala269Val
- rs1057520533
- ClinGen CA16604827
- ClinVar RCV000428786
- ClinVar RCV000675056
- Pathogenic/Likely pathogenic
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.82
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)