P10L (p.Pro10Leu) variant of TRAF3 (TNF receptor-associated factor 3)
P10L (p.Pro10Leu) 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 0.22 / 1. The record also includes population frequency data and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs542494294
- ClinGen CA7359138
- ClinVar RCV003033507
- ClinVar RCV004681601
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.02
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 3; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available