S45P (p.Ser45Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S45P (p.Ser45Pro) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- rs779548360
- ClinGen CA132260457
- cosmic curated COSV61298
- ClinVar RCV002387691
- Uncertain significance
- Atrial septal defect 7; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- AlphaMissense 0.21
- MetaLR 0.81
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.35
- EVE 0.21
- ClinVar: Uncertain significance (Atrial septal defect 7; Cardiovascular phenotype)
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Population evidence available
- Structural context available
- Cited in: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. (PMID 15342699)
- Cited in: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID 10587520)