S48A (p.Ser48Ala) variant of CMA1 (Chymase)
S48A (p.Ser48Ala) 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.
S48A (p.Ser48Ala) variant details
- p.Ser48Ala
- TOPMed rs1430013155
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available