T53N (p.Thr53Asn) variant of EZH1 (Q92800)
T53N (p.Thr53Asn) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T53N (p.Thr53Asn) variant details
- p.Thr53Asn
- TOPMed rs2053849579
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.72
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available