P40S (p.Pro40Ser) variant of FBN2 (Fibrillin-2)
P40S (p.Pro40Ser) 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 0.38 / 1. The record also includes published literature and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- rs2112810915
- ClinGen CA360762723
- ClinVar RCV001920480
- Ensembl rs2112810915
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.07
- MetaLR 0.31
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 0.08
- MutPred 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)