T43S (p.Thr43Ser) variant of CMA1 (Chymase)
T43S (p.Thr43Ser) in CMA1 (Chymase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T43S (p.Thr43Ser) variant details
- p.Thr43Ser
- ESP rs377088231
- TOPMed rs377088231
- gnomAD rs377088231
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 7.61
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available