H31R (p.His31Arg) variant of CMA1 (Chymase)
H31R (p.His31Arg) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H31R (p.His31Arg) variant details
- p.His31Arg
- TOPMed rs1463515827
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available