P106L (p.Pro106Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P106L (p.Pro106Leu) 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 0.48 / 1. The record also includes structural context.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- rs1188239387
- ClinVar RCV006588512
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.10
- MetaLR 0.64
- MetaSVM -0.37
- PolyPhen-2 0.74
- SIFT 0.14
- EVE 0.15
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available