E22K (p.Glu22Lys) variant of ESR1 (Estrogen receptor)
E22K (p.Glu22Lys) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- cosmic curated COSV10722
- TOPMed rs1583384537
- gnomAD rs1583384537
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.60
- MetaLR 0.88
- MetaSVM 0.91
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available