R25C (p.Arg25Cys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R25C (p.Arg25Cys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs28936670
- ClinGen CA120055
- cosmic curated COSV61298
- ClinVar RCV000009572
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.35
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Pathogenic (in ASD7, TOF, CHNG5, HLHS2 and CTHM)
- UniProt: Pathogenic (in ASD7, TOF, CHNG5, HLHS2 and CTHM)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID 10587520)
- Cited in: Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart… (PMID 10903346)