G30V (p.Gly30Val) variant of SMAD4 (SMAD family member 4)
G30V (p.Gly30Val) 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 0.60 / 1. The record also includes published literature and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- rs2144400831
- ClinGen CA402457576
- ClinVar RCV003597022
- Ensembl rs2144400831
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.44
- MetaSVM -0.19
- CADD 29.60
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- 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)