R460S (p.Arg460Ser) variant of TGFBR2 (TGF-beta receptor type-2)
R460S (p.Arg460Ser) 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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R460S (p.Arg460Ser) variant details
- p.Arg460Ser
- rs104893811
- ClinGen CA351809136
- ClinVar RCV001806344
- Ensembl rs104893811
- Likely pathogenic
- Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely 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)