T75N (p.Thr75Asn) variant of CMA1 (Chymase)
T75N (p.Thr75Asn) 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 and structural context.
T75N (p.Thr75Asn) variant details
- p.Thr75Asn
- ExAC rs764282767
- gnomAD rs764282767
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 13.60
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available