R76W (p.Arg76Trp) variant of FBN2 (Fibrillin-2)
R76W (p.Arg76Trp) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- cosmic curated COSV99329
- gnomAD rs1281702361
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.63
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available