D35N (p.Asp35Asn) variant of TGFBR2 (TGF-beta receptor type-2)
D35N (p.Asp35Asn) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diabetic retinopathy; not specified; Familial thoracic aortic aneurysm and aorti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D35N (p.Asp35Asn) variant details
- p.Asp35Asn
- rs984098699
- ClinGen CA71499877
- NCI-TCGA Cosmic COSV5545
- Conflicting interpretations
- Diabetic retinopathy; not specified; Familial thoracic aortic aneurysm and aorti
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- CADD 16.00
- PolyPhen-2 0.35
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (Diabetic retinopathy; not specified; Familial thoracic aortic an)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)