P44L (p.Pro44Leu) variant of FBN2 (Fibrillin-2)
P44L (p.Pro44Leu) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- cosmic curated COSV99331
- gnomAD rs1386059797
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.23
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available