E144K (p.Glu144Lys) variant of TRAF6 (TNF receptor-associated factor 6)
E144K (p.Glu144Lys) in TRAF6 (TNF receptor-associated factor 6) 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 0.32 / 1. The record also includes population frequency data and structural context.
E144K (p.Glu144Lys) variant details
- p.Glu144Lys
- rs915337241
- ClinGen CA220594191
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10077
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.07
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available