Q28K (p.Gln28Lys) variant of SMAD4 (SMAD family member 4)
Q28K (p.Gln28Lys) 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 0.57 / 1. The record also includes published literature and structural context.
Q28K (p.Gln28Lys) variant details
- p.Gln28Lys
- rs2144400785
- ClinGen CA402457539
- ClinVar RCV002033178
- Ensembl rs2144400785
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 0.50
- MetaLR 0.53
- MetaSVM 0.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.67
- 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)