L41V (p.Leu41Val) variant of EZH1 (Q92800)
L41V (p.Leu41Val) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar, EBI, 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 0.40 / 1. The record also includes population frequency data and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- rs1209219306
- ClinGen CA399651387
- ClinVar RCV004385744
- TOPMed rs1209219306
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.29
- CADD 8.49
- PolyPhen-2 0.04
- SIFT 0.58
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available