P90L (p.Pro90Leu) variant of EZH1 (Q92800)
P90L (p.Pro90Leu) 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 0.61 / 1. The record also includes population frequency data and structural context.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- rs1396708479
- ClinGen CA399649682
- ClinVar RCV004299426
- TOPMed rs1396708479
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.53
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available