C81S (p.Cys81Ser) variant of SMAD2 (SMAD family member 2)
C81S (p.Cys81Ser) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C81S (p.Cys81Ser) variant details
- p.Cys81Ser
- rs908853616
- ClinGen CA402502454
- ClinVar RCV003702362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.38
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available