L48M (p.Leu48Met) variant of TNFAIP3 (P21580)
L48M (p.Leu48Met) in TNFAIP3 (P21580) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
L48M (p.Leu48Met) variant details
- p.Leu48Met
- gnomAD rs1171070280
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available