H66Q (p.His66Gln) variant of CMA1 (Chymase)
H66Q (p.His66Gln) 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 0.69 / 1. The record also includes population frequency data and structural context.
H66Q (p.His66Gln) variant details
- p.His66Gln
- NCI-TCGA Cosmic COSV5162
- TOPMed rs1242280166
- gnomAD rs1242280166
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 23.10
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs5247)
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available