P86S (p.Pro86Ser) variant of FBN2 (Fibrillin-2)
P86S (p.Pro86Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P86S (p.Pro86Ser) variant details
- p.Pro86Ser
- rs2479825738
- ClinGen CA360761537
- ClinVar RCV002690969
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.72
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)