I55T (p.Ile55Thr) variant of CYP11B1 (P15538)
I55T (p.Ile55Thr) in CYP11B1 (P15538) 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, published literature, and structural context.
I55T (p.Ile55Thr) variant details
- p.Ile55Thr
- rs774884519
- gnomAD 8-142875352-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 6.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available
- Literature evidence available