P100L (p.Pro100Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P100L (p.Pro100Leu) 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 0.43 / 1. The record also includes population frequency data and structural context.
P100L (p.Pro100Leu) variant details
- p.Pro100Leu
- rs2480079313
- ClinGen CA362163291
- ClinVar RCV002833755
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.29
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.54
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available