G46C (p.Gly46Cys) variant of CMA1 (Chymase)
G46C (p.Gly46Cys) in CMA1 (Chymase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- 1000Genomes rs5246
- ESP rs5246
- ExAC rs5246
- TOPMed rs5246
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 19.00
- PolyPhen-2 0.94
- SIFT 0.02
- EBI: Likely benign (in dbSNP:rs5246)
- UniProt: Likely benign (in dbSNP:rs5246)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available