G53S (p.Gly53Ser) variant of CMA1 (Chymase)
G53S (p.Gly53Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- gnomAD rs1203782942
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 23.80
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available