R299W (p.Arg299Trp) variant of TGFB2 (P61812)
R299W (p.Arg299Trp) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of TGFB2-related disorder; not provided; Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R299W (p.Arg299Trp) variant details
- p.Arg299Trp
- rs863223792
- ClinGen CA320073
- cosmic curated COSV10820
- ClinVar RCV000195710
- Pathogenic/Likely pathogenic
- TGFB2-related disorder; not provided; Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (TGFB2-related disorder; not provided; Loeys-Dietz syndrome 4)
- EBI: Pathogenic (in LDS4)
- UniProt: Pathogenic (in LDS4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. (PMID 22772368)
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)