S40I (p.Ser40Ile) variant of EZH2 (Q15910)
S40I (p.Ser40Ile) in EZH2 (Q15910) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S40I (p.Ser40Ile) variant details
- p.Ser40Ile
- NCI-TCGA TCGA novel
- Ensembl rs2129485066
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00015)
- Structural context available