G20E (p.Gly20Glu) variant of ESR1 (Estrogen receptor)
G20E (p.Gly20Glu) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- cosmic curated COSV10722
- Ensembl rs1778148966
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.35
- MetaLR 0.81
- MetaSVM 0.49
- CADD 22.60
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available