M15I (p.Met15Ile) variant of EED (Polycomb protein EED)
M15I (p.Met15Ile) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M15I (p.Met15Ile) variant details
- p.Met15Ile
- ExAC rs202211864
- TOPMed rs202211864
- gnomAD rs202211864
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.17
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available