L14P (p.Leu14Pro) variant of FBN2 (Fibrillin-2)
L14P (p.Leu14Pro) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- cosmic curated COSV52532
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.42
- CADD 24.90
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available