G46S (p.Gly46Ser) variant of CMA1 (Chymase)
G46S (p.Gly46Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- 1000Genomes rs5246
- ESP rs5246
- ExAC rs5246
- TOPMed rs5246
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.16
- ESM-1b 0.06
- AlphaMissense 0.16
- CADD 6.94
- PolyPhen-2 0.34
- SIFT 0.13
- 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