A9P (p.Ala9Pro) variant of ESR1 (Estrogen receptor)
A9P (p.Ala9Pro) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- TOPMed rs1459388709
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.34
- MetaLR 0.52
- MetaSVM -0.10
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available