F30L (p.Phe30Leu) variant of TLR7 (Toll-like receptor 7)
F30L (p.Phe30Leu) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- TOPMed rs1298719672
- gnomAD rs1298719672
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -1.03
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available