L55F (p.Leu55Phe) variant of CMA1 (Chymase)
L55F (p.Leu55Phe) 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 0.63 / 1. The record also includes population frequency data and structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- NCI-TCGA Cosmic COSV5162
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available