P45L (p.Pro45Leu) variant of CYP11B1 (P15538)
P45L (p.Pro45Leu) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs1290274077
- gnomAD 8-142875322-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 3.82
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available