R84Q (p.Arg84Gln) variant of FBN2 (Fibrillin-2)
R84Q (p.Arg84Gln) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- rs747084358
- ClinGen CA3396197
- cosmic curated COSV52511
- ClinVar RCV001342953
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.56
- SIFT 0.79
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)