R320C (p.Arg320Cys) variant of TGFB2 (P61812)
R320C (p.Arg320Cys) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R320C (p.Arg320Cys) variant details
- p.Arg320Cys
- rs1553303352
- ClinGen CA344727446
- cosmic curated COSV10820
- ClinVar RCV000585795
- Pathogenic/Likely pathogenic
- Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and ao)
- EBI: Pathogenic (in LDS4)
- UniProt: Pathogenic (in LDS4)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic… (PMID 25046559)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)