G38R (p.Gly38Arg) variant of TRAF6 (TNF receptor-associated factor 6)
G38R (p.Gly38Arg) 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 0.36 / 1. The record also includes population frequency data and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- gnomAD rs1259355702
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.28
- MetaLR 0.34
- MetaSVM -0.51
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.59
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available