L14M (p.Leu14Met) variant of FBN2 (Fibrillin-2)
L14M (p.Leu14Met) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- cosmic curated COSV52523
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.21
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.14
- Population evidence available
- Structural context available