T127M (p.Thr127Met) variant of EZH1 (Q92800)
T127M (p.Thr127Met) 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 0.79 / 1. The record also includes population frequency data and structural context.
T127M (p.Thr127Met) variant details
- p.Thr127Met
- rs756635466
- ClinGen CA8582992
- ClinVar RCV004138587
- ExAC rs756635466
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.78
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available