K15I (p.Lys15Ile) variant of NKX2-5 (Homeobox protein Nkx-2.5)
K15I (p.Lys15Ile) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
K15I (p.Lys15Ile) variant details
- p.Lys15Ile
- rs387906773
- ClinGen CA212677
- ClinVar RCV000023020
- UniProt VAR 038213
- Pathogenic
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.59
- ClinVar: Pathogenic (Atrial septal defect 7)
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Structural context available
- Cited in: NKX2.5 mutations in patients with congenital heart disease. (PMID 14607454)
- Cited in: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID 15810002)