H6Y (p.His6Tyr) variant of ESR1 (Estrogen receptor)
H6Y (p.His6Tyr) in ESR1 (Estrogen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- rs139960913
- ClinGen CA4052073
- cosmic curated COSV52793
- ClinVar RCV000884714
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.49
- MetaLR 0.87
- MetaSVM 0.84
- CADD 23.80
- PolyPhen-2 0.74
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign (in a breast cancer sample)
- UniProt: Likely benign (in a breast cancer sample)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas. (PMID 17224074)