L118I (p.Leu118Ile) variant of CASP3 (Caspase-3)
L118I (p.Leu118Ile) in CASP3 (Caspase-3) 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 0.18 / 1. The record also includes population frequency data and structural context.
L118I (p.Leu118Ile) variant details
- p.Leu118Ile
- rs754299277
- NCI-TCGA Cosmic COSV5772
- cosmic curated COSV57724
- ExAC rs754299277
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- CADD 6.14
- PolyPhen-2 0.05
- SIFT 0.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available