E34K (p.Glu34Lys) variant of BTD (Biotinidase)
E34K (p.Glu34Lys) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- cosmic curated COSV57728
- ExAC rs397514338
- TOPMed rs397514338
- gnomAD rs397514338
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.22
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.36
- CADD 7.99
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available