R64L (p.Arg64Leu) variant of FBN2 (Fibrillin-2)
R64L (p.Arg64Leu) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R64L (p.Arg64Leu) variant details
- p.Arg64Leu
- cosmic curated COSV52538
- ESP rs371162767
- TOPMed rs371162767
- gnomAD rs371162767
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.16
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available