R58Q (p.Arg58Gln) variant of CMA1 (Chymase)
R58Q (p.Arg58Gln) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of EBV-positive nodal T- and NK-cell lymphoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- rs372192946
- ClinVar RCV004560195
- ESP rs372192946
- ExAC rs372192946
- Likely benign
- EBV-positive nodal T- and NK-cell lymphoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.40
- PolyPhen-2 0.04
- SIFT 0.63
- ClinVar: Likely benign (EBV-positive nodal T- and NK-cell lymphoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available