L3R (p.Leu3Arg) variant of CMA1 (Chymase)
L3R (p.Leu3Arg) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L3R (p.Leu3Arg) variant details
- p.Leu3Arg
- ESP rs138627111
- ExAC rs138627111
- TOPMed rs138627111
- gnomAD rs138627111
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 2.11
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available