F54L (p.Phe54Leu) variant of CMA1 (Chymase)
F54L (p.Phe54Leu) in CMA1 (Chymase) 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 0.99 / 1. The record also includes structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- NCI-TCGA Cosmic COSV9915
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available