E123Q (p.Glu123Gln) variant of WWTR1 (Q9GZV5)
E123Q (p.Glu123Gln) in WWTR1 (Q9GZV5) 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 0.41 / 1. The record also includes population frequency data and structural context.
E123Q (p.Glu123Gln) variant details
- p.Glu123Gln
- rs763418690
- NCI-TCGA Cosmic COSV6229
- cosmic curated COSV62291
- ExAC rs763418690
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.13
- CADD 28.90
- PolyPhen-2 0.75
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available