D2H (p.Asp2His) variant of SMAD4 (SMAD family member 4)
D2H (p.Asp2His) 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.
D2H (p.Asp2His) variant details
- p.Asp2His
- rs1555684979
- ClinGen CA402457195
- ClinVar RCV003021179
- Ensembl rs1555684979
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.09
- MetaLR 0.76
- MetaSVM 0.25
- PolyPhen-2 0.01
- SIFT 0.21
- MutPred 0.14
- 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)