L10P (p.Leu10Pro) variant of CMA1 (Chymase)
L10P (p.Leu10Pro) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- ExAC rs757604592
- TOPMed rs757604592
- gnomAD rs757604592
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.34
- ESM-1b 0.22
- AlphaMissense 0.11
- CADD 14.30
- PolyPhen-2 0.37
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available