R43W (p.Arg43Trp) variant of CYP11B1 (P15538)
R43W (p.Arg43Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs369213890
- cosmic curated COSV10462
- ESP rs369213890
- ExAC rs369213890
- Uncertain significance
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.21
- CADD 21.90
- PolyPhen-2 0.71
- 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 0.00028)
- Structural context available