L12I (p.Leu12Ile) variant of CMA1 (Chymase)
L12I (p.Leu12Ile) 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 0.51 / 1. The record also includes structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- NCI-TCGA Cosmic COSV5162
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- ESM-1b 0.75
- AlphaMissense 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available