R16W (p.Arg16Trp) variant of TNFAIP3 (P21580)
R16W (p.Arg16Trp) in TNFAIP3 (P21580) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs1414718116
- ClinGen CA365779594
- ClinVar RCV002303311
- TOPMed rs1414718116
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- MetaLR 0.05
- MetaSVM -1.13
- CADD 26.90
- PolyPhen-2 0.65
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available