N87D (p.Asn87Asp) variant of FBN2 (Fibrillin-2)
N87D (p.Asn87Asp) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
N87D (p.Asn87Asp) variant details
- p.Asn87Asp
- rs756569459
- ClinGen CA360761534
- ClinVar RCV002006310
- ExAC rs756569459
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.66
- CADD 28.70
- PolyPhen-2 0.82
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)