H27Q (p.His27Gln) variant of TGFBR2 (TGF-beta receptor type-2)
H27Q (p.His27Gln) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- rs1057520957
- cosmic curated COSV55445
- ClinGen CA351830617
- ClinVar RCV004012536
- Uncertain significance
- Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.17
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)