D2A (p.Asp2Ala) variant of SMAD4 (SMAD family member 4)
D2A (p.Asp2Ala) 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/hereditary hemorrhagic telangiectasia syndrome; Juvenile poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D2A (p.Asp2Ala) variant details
- p.Asp2Ala
- rs2144400144
- ClinGen CA402457197
- ClinVar RCV003761730
- ClinVar RCV004011651
- Uncertain significance
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Juvenile poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.27
- MetaLR 0.74
- MetaSVM 0.64
- PolyPhen-2 0.92
- SIFT 0.09
- MutPred 0.16
- ClinVar: Uncertain significance (Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)