T75T (p.Thr75Thr) variant of CMA1 (Chymase)
T75T (p.Thr75Thr) in CMA1 (Chymase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T75T (p.Thr75Thr) variant details
- p.Thr75Thr
- rs756334130
- gnomAD 14-24506589-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 7.65
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available