C82Y (p.Cys82Tyr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
C82Y (p.Cys82Tyr) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
C82Y (p.Cys82Tyr) variant details
- p.Cys82Tyr
- rs1333780727
- ClinGen CA362163407
- ClinVar RCV004518925
- ClinVar RCV005412658
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.14
- MetaLR 0.59
- MetaSVM -0.36
- PolyPhen-2 0.16
- SIFT 1.00
- EVE 0.12
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available