L6I (p.Leu6Ile) variant of TNFAIP3 (P21580)
L6I (p.Leu6Ile) in TNFAIP3 (P21580) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
L6I (p.Leu6Ile) variant details
- p.Leu6Ile
- rs2114457420
- ClinGen CA365779357
- ClinVar RCV001915392
- Ensembl rs2114457420
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available