D61E (p.Asp61Glu) variant of TRAF6 (TNF receptor-associated factor 6)
D61E (p.Asp61Glu) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
D61E (p.Asp61Glu) variant details
- p.Asp61Glu
- TOPMed rs1859712412
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.32
- MetaLR 0.38
- MetaSVM -0.68
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available