T73I (p.Thr73Ile) variant of CMA1 (Chymase)
T73I (p.Thr73Ile) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T73I (p.Thr73Ile) variant details
- p.Thr73Ile
- gnomAD 14-24506596-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 14.80
- PolyPhen-2 0.76
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available