R460H (p.Arg460His) variant of TGFBR2 (TGF-beta receptor type-2)
R460H (p.Arg460His) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Die. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R460H (p.Arg460His) variant details
- p.Arg460His
- rs104893816
- ClinGen CA020664
- NCI-TCGA Cosmic COSV5544
- Pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Die
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.90
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.04
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (PMID 16027248)
- Cited in: Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. (PMID 16251899)