R78Q (p.Arg78Gln) variant of TRAF6 (TNF receptor-associated factor 6)
R78Q (p.Arg78Gln) 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 0.71 / 1. The record also includes population frequency data and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs1859711944
- ClinGen CA380148270
- NCI-TCGA Cosmic COSV1007
- ClinVar RCV004471137
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.74
- MetaLR 0.68
- MetaSVM 0.41
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available