T26I (p.Thr26Ile) variant of CMA1 (Chymase)
T26I (p.Thr26Ile) in CMA1 (Chymase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- 1000Genomes rs552670864
- ExAC rs552670864
- TOPMed rs552670864
- gnomAD rs552670864
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available