C514R (p.Cys514Arg) variant of TGFBR2 (TGF-beta receptor type-2)
C514R (p.Cys514Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
C514R (p.Cys514Arg) variant details
- p.Cys514Arg
- rs193922664
- ClinGen CA020708
- cosmic curated COSV55451
- ClinVar RCV000030548
- Likely pathogenic
- Loeys-Dietz syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.75
- MetaLR 0.22
- MetaSVM -0.67
- PolyPhen-2 0.59
- SIFT 0.03
- EVE 0.43
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Structural context available
- Cited in: Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. (PMID 22113417)
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)