R64C (p.Arg64Cys) variant of FBN2 (Fibrillin-2)
R64C (p.Arg64Cys) in FBN2 (Fibrillin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99330
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.44
- CADD 21.20
- PolyPhen-2 0.35
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available