T26R (p.Thr26Arg) variant of CMA1 (Chymase)
T26R (p.Thr26Arg) in CMA1 (Chymase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T26R (p.Thr26Arg) variant details
- p.Thr26Arg
- rs552670864
- ClinGen CA389266443
- ClinVar RCV004097995
- 1000Genomes rs552670864
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.80
- PolyPhen-2 0.20
- SIFT 0.54
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available