Q116H (p.Gln116His) variant of TRAF6 (TNF receptor-associated factor 6)
Q116H (p.Gln116His) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q116H (p.Gln116His) variant details
- p.Gln116His
- 1000Genomes rs552722556
- ExAC rs552722556
- TOPMed rs552722556
- gnomAD rs552722556
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.67
- MetaLR 0.55
- MetaSVM -0.01
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available