S15C (p.Ser15Cys) variant of CMA1 (Chymase)
S15C (p.Ser15Cys) 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 0.25 / 1. The record also includes population frequency data and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- ExAC rs767064267
- TOPMed rs767064267
- gnomAD rs767064267
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.60
- PolyPhen-2 0.62
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available