C51F (p.Cys51Phe) variant of CMA1 (Chymase)
C51F (p.Cys51Phe) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C51F (p.Cys51Phe) variant details
- p.Cys51Phe
- gnomAD 14-24507413-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available