Q80E (p.Gln80Glu) variant of FBN2 (Fibrillin-2)
Q80E (p.Gln80Glu) 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 0.44 / 1. The record also includes population frequency data and structural context.
Q80E (p.Gln80Glu) variant details
- p.Gln80Glu
- NCI-TCGA Cosmic COSV5254
- cosmic curated COSV52540
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available