Q10R (p.Gln10Arg) variant of FBN2 (Fibrillin-2)
Q10R (p.Gln10Arg) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- rs547410742
- ClinGen CA3396243
- ClinVar RCV001066191
- 1000Genomes rs547410742
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.16
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.62
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)