P18R (p.Pro18Arg) variant of TRAF3 (TNF receptor-associated factor 3)
P18R (p.Pro18Arg) in TRAF3 (TNF receptor-associated factor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ependymoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- rs145456077
- ClinGen CA391069600
- ClinVar RCV000577847
- ESP rs145456077
- Uncertain significance
- Ependymoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.08
- CADD 5.50
- PolyPhen-2 0.17
- SIFT 0.87
- ClinVar: Uncertain significance (Ependymoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available