K139E (p.Lys139Glu) variant of ETFA (P13804)
K139E (p.Lys139Glu) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K139E (p.Lys139Glu) variant details
- p.Lys139Glu
- TOPMed rs2039717465
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.41
- ESM-1b 0.04
- AlphaMissense 0.10
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available