L8P (p.Leu8Pro) variant of TLR7 (Toll-like receptor 7)
L8P (p.Leu8Pro) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- ESP rs371046642
- TOPMed rs371046642
- gnomAD rs371046642
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.36
- MetaLR 0.16
- MetaSVM -0.67
- CADD 17.20
- PolyPhen-2 0.79
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available