V88L (p.Val88Leu) variant of FBN2 (Fibrillin-2)
V88L (p.Val88Leu) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V88L (p.Val88Leu) variant details
- p.Val88Leu
- rs1220181392
- ClinGen CA360761526
- ClinVar RCV002927515
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.68
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)