G25D (p.Gly25Asp) variant of FBN2 (Fibrillin-2)
G25D (p.Gly25Asp) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs2112811070
- ClinGen CA360763093
- cosmic curated COSV10806
- ClinVar RCV001363529
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.41
- CADD 24.10
- PolyPhen-2 0.62
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)