L39Q (p.Leu39Gln) variant of CMA1 (Chymase)
L39Q (p.Leu39Gln) 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 0.84 / 1. The record also includes structural context.
L39Q (p.Leu39Gln) variant details
- p.Leu39Gln
- NCI-TCGA Cosmic COSV5162
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.88
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available