D81V (p.Asp81Val) variant of FBN2 (Fibrillin-2)
D81V (p.Asp81Val) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D81V (p.Asp81Val) variant details
- p.Asp81Val
- gnomAD rs1273354021
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.55
- CADD 25.90
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available