S18N (p.Ser18Asn) variant of SMAD4 (SMAD family member 4)
S18N (p.Ser18Asn) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes structural context.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- Ensembl rs2144400567
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.07
- CADD 27.60
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- UniProt: Uncertain significance
- Structural context available