R5W (p.Arg5Trp) variant of FBN2 (Fibrillin-2)
R5W (p.Arg5Trp) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- cosmic curated COSV52513
- gnomAD rs1390199301
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.56
- CADD 26.50
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available