M3I (p.Met3Ile) variant of ESR1 (Estrogen receptor)
M3I (p.Met3Ile) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
M3I (p.Met3Ile) variant details
- p.Met3Ile
- TOPMed rs1778144292
- gnomAD rs1778144292
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.62
- MetaLR 0.84
- MetaSVM 0.83
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.10
- Population evidence available