H66P (p.His66Pro) variant of CMA1 (Chymase)
H66P (p.His66Pro) 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, published literature, and structural context.
H66P (p.His66Pro) variant details
- p.His66Pro
- gnomAD 14-24507368-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.77
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.04
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available
- Literature evidence available