L3F (p.Leu3Phe) variant of CMA1 (Chymase)
L3F (p.Leu3Phe) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- ExAC rs747022222
- TOPMed rs747022222
- gnomAD rs747022222
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- ESM-1b 0.45
- AlphaMissense 0.06
- CADD 2.55
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available