Q8K (p.Gln8Lys) variant of TNFAIP3 (P21580)
Q8K (p.Gln8Lys) in TNFAIP3 (P21580) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- gnomAD rs1461832435
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.11
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.03
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available