I33M (p.Ile33Met) variant of ESR1 (Estrogen receptor)
I33M (p.Ile33Met) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- 1000Genomes rs562174818
- ExAC rs562174818
- TOPMed rs562174818
- gnomAD rs562174818
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.19
- MetaLR 0.38
- MetaSVM -0.61
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available