L149P (p.Leu149Pro) variant of EZH2 (Q15910)
L149P (p.Leu149Pro) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EZH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
L149P (p.Leu149Pro) variant details
- p.Leu149Pro
- rs2129476923
- ClinGen CA369721498
- cosmic curated COSV57462
- ClinVar RCV004534263
- Uncertain significance
- EZH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.54
- ClinVar: Uncertain significance (EZH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available