K81E (p.Lys81Glu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
K81E (p.Lys81Glu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K81E (p.Lys81Glu) variant details
- p.Lys81Glu
- rs904474688
- ClinGen CA132260367
- ClinVar RCV000644447
- TOPMed rs904474688
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.33
- CADD 21.10
- PolyPhen-2 0.22
- SIFT 0.68
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available