R460P (p.Arg460Pro) variant of TGFBR2 (TGF-beta receptor type-2)
R460P (p.Arg460Pro) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R460P (p.Arg460Pro) variant details
- p.Arg460Pro
- rs104893816
- ClinGen CA351809139
- ClinVar RCV001806345
- ClinVar RCV003163945
- Pathogenic/Likely pathogenic
- not provided; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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)