R3I (p.Arg3Ile) variant of FBN2 (Fibrillin-2)
R3I (p.Arg3Ile) 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.
R3I (p.Arg3Ile) variant details
- p.Arg3Ile
- NCI-TCGA Cosmic COSV9932
- cosmic curated COSV99326
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.41
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available