L12F (p.Leu12Phe) variant of TNFAIP3 (P21580)
L12F (p.Leu12Phe) 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 0.39 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- rs1178250150
- NCI-TCGA Cosmic COSV5279
- cosmic curated COSV52797
- TOPMed rs1178250150
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- MetaLR 0.02
- MetaSVM -1.08
- CADD 21.00
- PolyPhen-2 0.20
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available