G46R (p.Gly46Arg) variant of CMA1 (Chymase)
G46R (p.Gly46Arg) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- rs5246
- ClinGen CA7139061
- ClinVar RCV000880120
- UniProt VAR 011770
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.15
- ESM-1b 0.58
- AlphaMissense 0.27
- CADD 17.30
- PolyPhen-2 0.77
- SIFT 0.05
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs5246)
- UniProt: Likely benign (in dbSNP:rs5246)
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available