Y56C (p.Tyr56Cys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Y56C (p.Tyr56Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- rs1360861650
- ClinGen CA362163552
- ClinVar RCV001992802
- gnomAD rs1360861650
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.44
- SIFT 0.11
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available