L69R (p.Leu69Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L69R (p.Leu69Arg) 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 0.52 / 1. The record also includes structural context.
L69R (p.Leu69Arg) variant details
- p.Leu69Arg
- rs1032793565
- ClinGen CA132260410
- ClinVar RCV000644445
- TOPMed rs1032793565
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.14
- MetaLR 0.66
- MetaSVM 0.16
- PolyPhen-2 0.88
- SIFT 0.10
- EVE 0.19
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance (in ASD7)
- UniProt: Uncertain significance (in ASD7)
- Structural context available