L10F (p.Leu10Phe) variant of CMA1 (Chymase)
L10F (p.Leu10Phe) 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 0.12 / 1. The record also includes population frequency data and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs1163104747
- NCI-TCGA Cosmic COSV9915
- TOPMed rs1163104747
- gnomAD rs1163104747
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.10
- ESM-1b 0.05
- AlphaMissense 0.08
- CADD 5.06
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available