Y38* (p.Tyr38Ter) variant of CMA1 (Chymase)
Y38* (p.Tyr38Ter) in CMA1 (Chymase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y38* (p.Tyr38Ter) variant details
- p.Tyr38Ter
- 1000Genomes rs13306254
- ESP rs13306254
- ExAC rs13306254
- TOPMed rs13306254
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 35.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available