G267S (p.Gly267Ser) variant of CYP11B1 (P15538)
G267S (p.Gly267Ser) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glucocorticoid-remediable aldosteronism; not provided; Deficiency of steroid 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G267S (p.Gly267Ser) variant details
- p.Gly267Ser
- rs1421641874
- ClinGen CA372395371
- ClinVar RCV002249852
- ClinVar RCV003094023
- Pathogenic/Likely pathogenic
- Glucocorticoid-remediable aldosteronism; not provided; Deficiency of steroid 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.13
- CADD 32.00
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Glucocorticoid-remediable aldosteronism; not provided; Deficienc)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available