R77L (p.Arg77Leu) variant of FBN2 (Fibrillin-2)
R77L (p.Arg77Leu) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R77L (p.Arg77Leu) variant details
- p.Arg77Leu
- rs889066564
- ClinGen CA127058837
- ClinVar RCV000805936
- TOPMed rs889066564
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.52
- CADD 27.50
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)