L153P (p.Leu153Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L153P (p.Leu153Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
L153P (p.Leu153Pro) variant details
- p.Leu153Pro
- rs2113901873
- ClinGen CA362161822
- ClinVar RCV001376992
- Ensembl rs2113901873
- Likely pathogenic
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Atrial septal defect 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available