L3I (p.Leu3Ile) variant of CMA1 (Chymase)
L3I (p.Leu3Ile) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
L3I (p.Leu3Ile) variant details
- p.Leu3Ile
- ExAC rs747022222
- TOPMed rs747022222
- gnomAD rs747022222
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- ESM-1b 1.00
- AlphaMissense 0.08
- Structural context available