L148I (p.Leu148Ile) variant of CASK (O14936)
L148I (p.Leu148Ile) in CASK (O14936) 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 0.63 / 1. The record also includes population frequency data and structural context.
L148I (p.Leu148Ile) variant details
- p.Leu148Ile
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10058
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.58
- CADD 23.30
- PolyPhen-2 0.51
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available