T26R (p.Thr26Arg) variant of CYP11B1 (P15538)
T26R (p.Thr26Arg) in CYP11B1 (P15538) 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 0.27 / 1. The record also includes population frequency data and structural context.
T26R (p.Thr26Arg) variant details
- p.Thr26Arg
- 1000Genomes rs139569725
- ESP rs139569725
- ExAC rs139569725
- TOPMed rs139569725
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.23
- CADD 16.80
- PolyPhen-2 0.94
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available