S57F (p.Ser57Phe) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
S57F (p.Ser57Phe) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- rs2536182830
- ClinGen CA365369925
- ClinVar RCV004351732
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.05
- CADD 15.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available