L48P (p.Leu48Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L48P (p.Leu48Pro) 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 Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- rs1284932088
- ClinGen CA362163603
- ClinVar RCV003874305
- ClinVar RCV005445996
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.53
- MetaLR 0.92
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available