E44K (p.Glu44Lys) variant of BTD (Biotinidase)
E44K (p.Glu44Lys) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs397514340
- NCI-TCGA Cosmic COSV5772
- cosmic curated COSV57729
- Ensembl rs397514340
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.86
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available