E36G (p.Glu36Gly) variant of ESR1 (Estrogen receptor)
E36G (p.Glu36Gly) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E36G (p.Glu36Gly) variant details
- p.Glu36Gly
- Ensembl rs2128155713
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.52
- MetaLR 0.73
- MetaSVM 0.46
- CADD 26.70
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available