P86R (p.Pro86Arg) variant of FBN2 (Fibrillin-2)
P86R (p.Pro86Arg) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P86R (p.Pro86Arg) variant details
- p.Pro86Arg
- rs749819006
- ClinGen CA3396168
- ClinVar RCV000552082
- ClinVar RCV001770413
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.80
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)