R394H (p.Arg394His) variant of ESR1 (Estrogen receptor)
R394H (p.Arg394His) in ESR1 (Estrogen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Estrogen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and published literature.
R394H (p.Arg394His) variant details
- p.Arg394His
- rs1131692059
- ClinGen CA16609296
- NCI-TCGA Cosmic COSV5279
- cosmic curated COSV52798
- Pathogenic/Likely pathogenic
- Estrogen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Estrogen resistance syndrome)
- EBI: Pathogenic (in ESTRR)
- UniProt: Pathogenic (in ESTRR)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Cited in: Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation. (PMID 27754803)
- Cited in: Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. (PMID 23841731)