C461R (p.Cys461Arg) variant of TGFBR2 (TGF-beta receptor type-2)
C461R (p.Cys461Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
C461R (p.Cys461Arg) variant details
- p.Cys461Arg
- rs1553630457
- ClinGen CA351809141
- ClinVar RCV000499370
- Ensembl rs1553630457
- Pathogenic
- Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 0.88
- MetaLR 0.41
- MetaSVM -0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Loeys-Dietz syndrome 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)