T26K (p.Thr26Lys) variant of CYP11B1 (P15538)
T26K (p.Thr26Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
T26K (p.Thr26Lys) variant details
- p.Thr26Lys
- 1000Genomes rs139569725
- ESP rs139569725
- ExAC rs139569725
- TOPMed rs139569725
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.17
- CADD 20.80
- PolyPhen-2 0.84
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available