G53D (p.Gly53Asp) variant of CMA1 (Chymase)
G53D (p.Gly53Asp) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- gnomAD 14-24507407-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 21.80
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available