L12F (p.Leu12Phe) variant of CMA1 (Chymase)
L12F (p.Leu12Phe) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- ExAC rs754249339
- gnomAD rs754249339
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available