P47S (p.Pro47Ser) variant of CMA1 (Chymase)
P47S (p.Pro47Ser) 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, published literature, and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- gnomAD 14-24507426-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available