R22Q (p.Arg22Gln) variant of TNFAIP3 (P21580)
R22Q (p.Arg22Gln) 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 0.64 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs199876928
- ClinGen CA148256917
- cosmic curated COSV52799
- ClinVar RCV001922792
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.13
- MetaSVM -1.05
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available