C10Y (p.Cys10Tyr) variant of CYP11B1 (P15538)
C10Y (p.Cys10Tyr) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- rs6405
- ClinGen CA4905738
- ClinVar RCV001358047
- ClinVar RCV002493832
- Likely benign
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.24
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Likely benign (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Likely benign (in dbSNP:rs6405)
- UniProt: Likely benign (in dbSNP:rs6405)
- Most common in the 1KG:ASW population (allele frequency 0.02)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)