T7M (p.Thr7Met) variant of SMAD4 (SMAD family member 4)
T7M (p.Thr7Met) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Juvenile poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- rs372316981
- ClinGen CA186263
- ClinVar RCV000162438
- ClinVar RCV000196213
- Conflicting interpretations
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Juvenile poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.44
- AlphaMissense 0.13
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.10
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrom)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)