R76G (p.Arg76Gly) variant of FBN2 (Fibrillin-2)
R76G (p.Arg76Gly) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- gnomAD rs1281702361
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.59
- CADD 23.20
- PolyPhen-2 0.93
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available