E24Q (p.Glu24Gln) variant of ESR1 (Estrogen receptor)
E24Q (p.Glu24Gln) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- gnomAD rs1778150690
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.66
- MetaLR 0.87
- MetaSVM 0.92
- CADD 27.60
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available