V70L (p.Val70Leu) variant of FBN2 (Fibrillin-2)
V70L (p.Val70Leu) 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.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- rs1756883199
- ClinGen CA360762048
- ClinVar RCV001309796
- Ensembl rs1756883199
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.09
- MetaLR 0.29
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.24
- MutPred 0.36
- 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)