K52N (p.Lys52Asn) variant of TRAF3 (TNF receptor-associated factor 3)
K52N (p.Lys52Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- rs779844990
- ClinGen CA7359163
- ClinVar RCV001896053
- ExAC rs779844990
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.26
- MetaLR 0.39
- MetaSVM -0.45
- CADD 22.80
- PolyPhen-2 0.33
- SIFT 0.12
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available