Q17E (p.Gln17Glu) variant of ESR1 (Estrogen receptor)
Q17E (p.Gln17Glu) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q17E (p.Gln17Glu) variant details
- p.Gln17Glu
- gnomAD 6-151807961-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.52
- MetaLR 0.87
- MetaSVM 0.81
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available