V70E (p.Val70Glu) variant of FBN2 (Fibrillin-2)
V70E (p.Val70Glu) 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 0.34 / 1. The record also includes published literature and structural context.
V70E (p.Val70Glu) variant details
- p.Val70Glu
- rs144149249
- ClinGen CA360762038
- ClinVar RCV002932705
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.05
- MetaLR 0.24
- MetaSVM -0.87
- PolyPhen-2 0.00
- SIFT 1.00
- 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)