R16Q (p.Arg16Gln) variant of TNFAIP3 (P21580)
R16Q (p.Arg16Gln) in TNFAIP3 (P21580) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs759654484
- NCI-TCGA Cosmic COSV9939
- cosmic curated COSV99396
- ExAC rs759654484
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- MetaLR 0.02
- MetaSVM -1.09
- CADD 24.90
- PolyPhen-2 0.28
- SIFT 0.27
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available