A37S (p.Ala37Ser) variant of CMA1 (Chymase)
A37S (p.Ala37Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- ExAC rs549266517
- gnomAD rs549266517
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available