L36Q (p.Leu36Gln) variant of CYP11B1 (P15538)
L36Q (p.Leu36Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L36Q (p.Leu36Gln) variant details
- p.Leu36Gln
- ExAC rs755448048
- TOPMed rs755448048
- gnomAD rs755448048
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.12
- CADD 14.50
- PolyPhen-2 0.09
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available