F38I (p.Phe38Ile) variant of CYP11B1 (P15538)
F38I (p.Phe38Ile) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
F38I (p.Phe38Ile) variant details
- p.Phe38Ile
- ExAC rs754316010
- gnomAD rs754316010
- Uncertain significance
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.67
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available