F30L (p.Phe30Leu) variant of TNFAIP3 (P21580)
F30L (p.Phe30Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- rs758096571
- ClinGen CA4019344
- cosmic curated COSV10458
- ClinVar RCV002214408
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- MetaLR 0.01
- MetaSVM -1.01
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available