L56I (p.Leu56Ile) variant of F5 (Coagulation factor V)
L56I (p.Leu56Ile) in F5 (Coagulation factor V) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L56I (p.Leu56Ile) variant details
- p.Leu56Ile
- NCI-TCGA Cosmic COSV6312
- cosmic curated COSV63120
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.14
- CADD 3.84
- PolyPhen-2 0.01
- SIFT 0.46
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available