G77A (p.Gly77Ala) variant of CMA1 (Chymase)
G77A (p.Gly77Ala) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G77A (p.Gly77Ala) variant details
- p.Gly77Ala
- gnomAD 14-24506584-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available