F54C (p.Phe54Cys) variant of CMA1 (Chymase)
F54C (p.Phe54Cys) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
F54C (p.Phe54Cys) variant details
- p.Phe54Cys
- ExAC rs753433709
- gnomAD rs753433709
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available