F60S (p.Phe60Ser) variant of CMA1 (Chymase)
F60S (p.Phe60Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F60S (p.Phe60Ser) variant details
- p.Phe60Ser
- gnomAD 14-24507386-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available