A37T (p.Ala37Thr) variant of CMA1 (Chymase)
A37T (p.Ala37Thr) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- ExAC rs549266517
- gnomAD rs549266517
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available