E123K (p.Glu123Lys) variant of WWTR1 (Q9GZV5)
E123K (p.Glu123Lys) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E123K (p.Glu123Lys) variant details
- p.Glu123Lys
- cosmic curated COSV10652
- ExAC rs763418690
- TOPMed rs763418690
- gnomAD rs763418690
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.20
- CADD 31.00
- PolyPhen-2 0.47
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available