H26Y (p.His26Tyr) variant of SMAD4 (SMAD family member 4)
H26Y (p.His26Tyr) 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 0.54 / 1. The record also includes published literature and structural context.
H26Y (p.His26Tyr) variant details
- p.His26Tyr
- rs2144400736
- ClinGen CA402457517
- ClinVar RCV001867537
- Ensembl rs2144400736
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.96
- MetaLR 0.46
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.70
- 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)