R48W (p.Arg48Trp) variant of FBN2 (Fibrillin-2)
R48W (p.Arg48Trp) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R48W (p.Arg48Trp) variant details
- p.Arg48Trp
- TOPMed rs1409799200
- gnomAD rs1409799200
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.38
- CADD 23.60
- PolyPhen-2 0.23
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available