S10S (p.Ser10Ser) variant of ESR1 (Estrogen receptor)
S10S (p.Ser10Ser) in ESR1 (Estrogen receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S10S (p.Ser10Ser) variant details
- p.Ser10Ser
- rs2077647
- gnomAD 6-151807942-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.18
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Association of estrogen receptor single nucleotide polymorphisms and perinatal depression. (PMID 41100533)
- Cited in: Sex hormone-related polymorphisms in endometriosis and migraine: A narrative review. (PMID 35848345)