L171P (p.Leu171Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L171P (p.Leu171Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
L171P (p.Leu171Pro) variant details
- p.Leu171Pro
- rs797045791
- ClinGen CA362161711
- ClinVar RCV002007293
- Ensembl rs797045791
- Pathogenic
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Atrial septal defect 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available