W22R (p.Trp22Arg) variant of FBN2 (Fibrillin-2)
W22R (p.Trp22Arg) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
W22R (p.Trp22Arg) variant details
- p.Trp22Arg
- TOPMed rs1169187102
- gnomAD rs1169187102
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.56
- CADD 25.50
- PolyPhen-2 0.37
- SIFT 0.05
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available