K20N (p.Lys20Asn) variant of TNFAIP3 (P21580)
K20N (p.Lys20Asn) in TNFAIP3 (P21580) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- rs1302093455
- ClinGen CA365779730
- ClinVar RCV003442597
- TOPMed rs1302093455
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- MetaLR 0.09
- MetaSVM -1.08
- CADD 27.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available