T63R (p.Thr63Arg) variant of CMA1 (Chymase)
T63R (p.Thr63Arg) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T63R (p.Thr63Arg) variant details
- p.Thr63Arg
- 1000Genomes rs13306251
- ESP rs13306251
- ExAC rs13306251
- TOPMed rs13306251
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available