P67L (p.Pro67Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P67L (p.Pro67Leu) 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 structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- rs2113906300
- ClinGen CA362163493
- ClinVar RCV001991449
- Ensembl rs2113906300
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.15
- MetaLR 0.51
- MetaSVM 0.09
- PolyPhen-2 0.01
- SIFT 0.26
- EVE 0.10
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available