R43Q (p.Arg43Gln) variant of CYP11B1 (P15538)
R43Q (p.Arg43Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Glucocorticoid-remediable aldosteronism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- rs4534
- ClinGen CA4905708
- cosmic curated COSV52824
- ClinVar RCV000339466
- Benign/Likely benign
- not specified; not provided; Glucocorticoid-remediable aldosteronism
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.14
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not specified; not provided; Glucocorticoid-remediable aldostero)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SURUI population (allele frequency 0.86)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. (PMID 10391210)