E40K (p.Glu40Lys) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
E40K (p.Glu40Lys) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) 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 0.28 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs773041017
- NCI-TCGA Cosmic COSV6067
- cosmic curated COSV60676
- ExAC rs773041017
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.00
- PolyPhen-2 0.01
- SIFT 0.03
- EVE 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available