R58W (p.Arg58Trp) variant of CMA1 (Chymase)
R58W (p.Arg58Trp) in CMA1 (Chymase) is a missense change. 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.
R58W (p.Arg58Trp) variant details
- p.Arg58Trp
- 1000Genomes rs202195650
- ExAC rs202195650
- TOPMed rs202195650
- gnomAD rs202195650
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.16
- ESM-1b 0.26
- AlphaMissense 0.36
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available