L76F (p.Leu76Phe) variant of CMA1 (Chymase)
L76F (p.Leu76Phe) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L76F (p.Leu76Phe) variant details
- p.Leu76Phe
- ExAC rs752959307
- gnomAD rs752959307
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available