L50I (p.Leu50Ile) variant of CYP11B1 (P15538)
L50I (p.Leu50Ile) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L50I (p.Leu50Ile) variant details
- p.Leu50Ile
- gnomAD 8-142875338-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.62
- Population evidence available
- Structural context available
- Literature evidence available