T7R (p.Thr7Arg) variant of SMAD4 (SMAD family member 4)
T7R (p.Thr7Arg) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- rs372316981
- ClinGen CA402457247
- ClinVar RCV001237501
- 1000Genomes rs372316981
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.13
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)