P35L (p.Pro35Leu) variant of FBN2 (Fibrillin-2)
P35L (p.Pro35Leu) 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 0.37 / 1. The record also includes published literature and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs2112810970
- ClinGen CA360762857
- ClinVar RCV001942935
- Ensembl rs2112810970
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.09
- MetaLR 0.26
- MetaSVM -0.83
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.26
- 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)