R45Q (p.Arg45Gln) variant of TNFAIP3 (P21580)
R45Q (p.Arg45Gln) in TNFAIP3 (P21580) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs1422470027
- ClinGen CA365780422
- ClinVar RCV002771142
- TOPMed rs1422470027
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- MetaLR 0.11
- MetaSVM -1.08
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available