L6F (p.Leu6Phe) variant of TNFAIP3 (P21580)
L6F (p.Leu6Phe) 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 0.62 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- Ensembl rs2114457420
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- MetaLR 0.12
- MetaSVM -0.98
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available