M15L (p.Met15Leu) variant of EED (Polycomb protein EED)
M15L (p.Met15Leu) in EED (Polycomb protein EED) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M15L (p.Met15Leu) variant details
- p.Met15Leu
- 1000Genomes rs200782451
- ESP rs200782451
- ExAC rs200782451
- TOPMed rs200782451
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available