L6F (p.Leu6Phe) variant of CMA1 (Chymase)
L6F (p.Leu6Phe) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- TOPMed rs1480567411
- gnomAD rs1480567411
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.60
- PolyPhen-2 0.06
- SIFT 0.46
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available