L80P (p.Leu80Pro) variant of EZH1 (Q92800)
L80P (p.Leu80Pro) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L80P (p.Leu80Pro) variant details
- p.Leu80Pro
- ExAC rs780768939
- gnomAD rs780768939
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.68
- CADD 19.90
- PolyPhen-2 0.28
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available