H31Y (p.His31Tyr) variant of CMA1 (Chymase)
H31Y (p.His31Tyr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
H31Y (p.His31Tyr) variant details
- p.His31Tyr
- ExAC rs755484632
- gnomAD rs755484632
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available