R254C (p.Arg254Cys) variant of TGFBR2 (TGF-beta receptor type-2)
R254C (p.Arg254Cys) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, heredit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R254C (p.Arg254Cys) variant details
- p.Arg254Cys
- rs863223856
- ClinGen CA323430
- cosmic curated COSV99847
- ClinVar RCV000198902
- Conflicting interpretations
- Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, heredit
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.89
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)