R2C (p.Arg2Cys) variant of FBN1 (Fibrillin-1)
R2C (p.Arg2Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57312
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.33
- MetaLR 0.41
- MetaSVM -0.19
- CADD 25.70
- PolyPhen-2 0.92
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)