P5S (p.Pro5Ser) variant of CMA1 (Chymase)
P5S (p.Pro5Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- TOPMed rs866911710
- gnomAD rs866911710
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 4.85
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available