E23Q (p.Glu23Gln) variant of TNFAIP3 (P21580)
E23Q (p.Glu23Gln) in TNFAIP3 (P21580) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- gnomAD 6-137871294-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available