A69V (p.Ala69Val) variant of FBN2 (Fibrillin-2)
A69V (p.Ala69Val) 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 0.41 / 1. The record also includes published literature and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- rs1756883252
- ClinGen CA360762054
- ClinVar RCV001911185
- NCI-TCGA TCGA novel
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.09
- MetaLR 0.40
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.14
- MutPred 0.29
- 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)