Q375H (p.Gln375His) variant of ESR1 (Estrogen receptor)
Q375H (p.Gln375His) in ESR1 (Estrogen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Estrogen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature.
Q375H (p.Gln375His) variant details
- p.Gln375His
- rs397509428
- ClinGen CA144575
- ClinVar RCV000054445
- UniProt VAR 070072
- Pathogenic
- Estrogen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Estrogen resistance syndrome)
- EBI: Pathogenic (in ESTRR)
- UniProt: Pathogenic (in ESTRR)
- Cited in: Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. (PMID 23841731)
- Cited in: Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation. (PMID 27754803)