S15P (p.Ser15Pro) variant of CMA1 (Chymase)
S15P (p.Ser15Pro) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- ExAC rs752097096
- gnomAD rs752097096
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.74
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available