S32F (p.Ser32Phe) variant of CMA1 (Chymase)
S32F (p.Ser32Phe) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- gnomAD rs2043867955
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 26.00
- SIFT 0.01
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available