Q30E (p.Gln30Glu) variant of ESR1 (Estrogen receptor)
Q30E (p.Gln30Glu) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q30E (p.Gln30Glu) variant details
- p.Gln30Glu
- gnomAD 6-151808000-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.45
- MetaLR 0.76
- MetaSVM 0.61
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.04
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available