L33F (p.Leu33Phe) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L33F (p.Leu33Phe) 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 Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- rs1048146799
- ClinGen CA132260474
- ClinVar RCV003360656
- ClinVar RCV006472440
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.11
- MetaLR 0.83
- MetaSVM 0.64
- PolyPhen-2 0.94
- SIFT 0.06
- MutPred 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available