N87H (p.Asn87His) variant of FBN2 (Fibrillin-2)
N87H (p.Asn87His) 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 0.65 / 1. The record also includes population frequency data and structural context.
N87H (p.Asn87His) variant details
- p.Asn87His
- ExAC rs756569459
- gnomAD rs756569459
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.69
- CADD 25.00
- PolyPhen-2 0.24
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available