A13A (p.Ala13Ala) variant of ESR1 (Estrogen receptor)
A13A (p.Ala13Ala) in ESR1 (Estrogen receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs1474043222
- gnomAD 6-151807951-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 12.20
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available