Q30Q (p.Gln30Gln) variant of ESR1 (Estrogen receptor)
Q30Q (p.Gln30Gln) in ESR1 (Estrogen receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q30Q (p.Gln30Gln) variant details
- p.Gln30Gln
- rs1246892882
- gnomAD 6-151808002-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 13.40
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available