T63M (p.Thr63Met) variant of CMA1 (Chymase)
T63M (p.Thr63Met) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
T63M (p.Thr63Met) variant details
- p.Thr63Met
- 1000Genomes rs13306251
- ESP rs13306251
- ExAC rs13306251
- TOPMed rs13306251
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 24.60
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available