P17R (p.Pro17Arg) variant of TRAF3 (TNF receptor-associated factor 3)
P17R (p.Pro17Arg) in TRAF3 (TNF receptor-associated factor 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- ExAC rs745517643
- TOPMed rs745517643
- gnomAD rs745517643
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -0.90
- CADD 20.60
- PolyPhen-2 0.45
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available