E27Q (p.Glu27Gln) variant of TNFAIP3 (P21580)
E27Q (p.Glu27Gln) in TNFAIP3 (P21580) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- Ensembl rs2114458508
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- MetaLR 0.03
- MetaSVM -1.10
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available