C82S (p.Cys82Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
C82S (p.Cys82Ser) 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 not provided; not specified; 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.
C82S (p.Cys82Ser) variant details
- p.Cys82Ser
- 1000Genomes rs150813574
- ExAC rs150813574
- gnomAD rs150813574
- Uncertain significance
- not provided; not specified; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.22
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (not provided; not specified; Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available