H2R (p.His2Arg) variant of TGFB2 (P61812)
H2R (p.His2Arg) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H2R (p.His2Arg) variant details
- p.His2Arg
- cosmic curated COSV65108
- 1000Genomes rs187697359
- ExAC rs187697359
- gnomAD rs187697359
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available