R528S (p.Arg528Ser) variant of TGFBR2 (TGF-beta receptor type-2)
R528S (p.Arg528Ser) 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 0.93 / 1. The record also includes published literature and structural context.
R528S (p.Arg528Ser) variant details
- p.Arg528Ser
- rs104893810
- ClinGen CA351809603
- cosmic curated COSV99848
- ClinVar RCV001730017
- Pathogenic
- Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Loeys-Dietz syndrome 2)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- 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)