K56E (p.Lys56Glu) variant of TAFAZZIN (Q16635)
K56E (p.Lys56Glu) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- TOPMed rs2068328473
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available