T43P (p.Thr43Pro) variant of CMA1 (Chymase)
T43P (p.Thr43Pro) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T43P (p.Thr43Pro) variant details
- p.Thr43Pro
- gnomAD rs1351643501
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 17.60
- PolyPhen-2 0.78
- SIFT 0.02
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available