L53I (p.Leu53Ile) variant of FBN1 (Fibrillin-1)
L53I (p.Leu53Ile) in FBN1 (Fibrillin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
L53I (p.Leu53Ile) variant details
- p.Leu53Ile
- NCI-TCGA Cosmic COSV5732
- cosmic curated COSV57323
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.27
- MetaLR 0.64
- MetaSVM 0.34
- CADD 27.30
- PolyPhen-2 0.90
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)