L3P (p.Leu3Pro) variant of CMA1 (Chymase)
L3P (p.Leu3Pro) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- ESP rs138627111
- ExAC rs138627111
- TOPMed rs138627111
- gnomAD rs138627111
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 2.85
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available