Y406C (p.Tyr406Cys) variant of SMAD2 (SMAD family member 2)
Y406C (p.Tyr406Cys) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Loeys-Dietz syndrome 6; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y406C (p.Tyr406Cys) variant details
- p.Tyr406Cys
- rs2144287574
- ClinGen CA402503631
- NCI-TCGA Cosmic COSV5099
- cosmic curated COSV50997
- Pathogenic/Likely pathogenic
- Loeys-Dietz syndrome 6; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.93
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Loeys-Dietz syndrome 6; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available