H66N (p.His66Asn) variant of CMA1 (Chymase)
H66N (p.His66Asn) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H66N (p.His66Asn) variant details
- p.His66Asn
- gnomAD 14-24507369-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 25.60
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available