E60K (p.Glu60Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E60K (p.Glu60Lys) 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 0.47 / 1. The record also includes population frequency data and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- rs766199339
- ClinGen CA362163534
- cosmic curated COSV61299
- ClinVar RCV002917438
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available