E65Q (p.Glu65Gln) variant of FBN2 (Fibrillin-2)
E65Q (p.Glu65Gln) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E65Q (p.Glu65Gln) variant details
- p.Glu65Gln
- rs1561504900
- ClinGen CA360762161
- ClinVar RCV000689249
- Ensembl rs1561504900
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.23
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)