L64P (p.Leu64Pro) variant of CYP11B1 (P15538)
L64P (p.Leu64Pro) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 11-beta-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L64P (p.Leu64Pro) variant details
- p.Leu64Pro
- gnomAD rs1245981952
- Uncertain significance
- Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Deficiency of steroid 11-beta-monooxygenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available