R84P (p.Arg84Pro) variant of FBN2 (Fibrillin-2)
R84P (p.Arg84Pro) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R84P (p.Arg84Pro) variant details
- p.Arg84Pro
- rs747084358
- ClinGen CA127058791
- ClinVar RCV003077262
- ExAC rs747084358
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.65
- CADD 28.40
- PolyPhen-2 0.84
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)