C14R (p.Cys14Arg) variant of CMA1 (Chymase)
C14R (p.Cys14Arg) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C14R (p.Cys14Arg) variant details
- p.Cys14Arg
- ExAC rs750271409
- TOPMed rs750271409
- gnomAD rs750271409
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 11.70
- PolyPhen-2 0.04
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available