G29D (p.Gly29Asp) variant of SMAD4 (SMAD family member 4)
G29D (p.Gly29Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- rs2144400817
- ClinGen CA402457561
- ClinVar RCV003596373
- ClinVar RCV004775422
- Uncertain significance
- Juvenile polyposis syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.62
- MetaLR 0.53
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.69
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; not provided)
- 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)