P18L (p.Pro18Leu) variant of TRAF3 (TNF receptor-associated factor 3)
P18L (p.Pro18Leu) 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 Herpes simplex encephalitis, susceptibility to, 3; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs145456077
- cosmic curated COSV10069
- ESP rs145456077
- ExAC rs145456077
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.07
- CADD 8.84
- PolyPhen-2 0.05
- SIFT 0.24
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 3; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available