L9M (p.Leu9Met) variant of CMA1 (Chymase)
L9M (p.Leu9Met) 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 0.33 / 1. The record also includes population frequency data and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- NCI-TCGA Cosmic COSV9915
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 14.60
- PolyPhen-2 0.83
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available