S25C (p.Ser25Cys) variant of SMAD2 (SMAD family member 2)
S25C (p.Ser25Cys) 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 0.44 / 1. The record also includes population frequency data and structural context.
S25C (p.Ser25Cys) variant details
- p.Ser25Cys
- rs143058641
- ClinGen CA8956341
- ClinVar RCV002676328
- ESP rs143058641
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.16
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available