L76P (p.Leu76Pro) variant of CMA1 (Chymase)
L76P (p.Leu76Pro) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L76P (p.Leu76Pro) variant details
- p.Leu76Pro
- TOPMed rs1461735217
- gnomAD rs1461735217
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available