C67F (p.Cys67Phe) variant of CMA1 (Chymase)
C67F (p.Cys67Phe) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C67F (p.Cys67Phe) variant details
- p.Cys67Phe
- gnomAD 14-24507365-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available