R75L (p.Arg75Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R75L (p.Arg75Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
R75L (p.Arg75Leu) variant details
- p.Arg75Leu
- rs1363174603
- ClinGen CA362163444
- ClinVar RCV001872366
- gnomAD rs1363174603
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.27
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available