S32A (p.Ser32Ala) variant of CMA1 (Chymase)
S32A (p.Ser32Ala) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S32A (p.Ser32Ala) variant details
- p.Ser32Ala
- TOPMed rs2043867979
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available