G52S (p.Gly52Ser) variant of CMA1 (Chymase)
G52S (p.Gly52Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G52S (p.Gly52Ser) variant details
- p.Gly52Ser
- ExAC rs778307845
- gnomAD rs778307845
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 23.00
- PolyPhen-2 0.73
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available