P100T (p.Pro100Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P100T (p.Pro100Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P100T (p.Pro100Thr) variant details
- p.Pro100Thr
- rs550046293
- ClinGen CA132260336
- ClinVar RCV000701268
- ClinVar RCV002440511
- Conflicting interpretations
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.17
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available