D81N (p.Asp81Asn) variant of FBN2 (Fibrillin-2)
D81N (p.Asp81Asn) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D81N (p.Asp81Asn) variant details
- p.Asp81Asn
- 1000Genomes rs570260689
- ExAC rs570260689
- gnomAD rs570260689
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.22
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available