P82L (p.Pro82Leu) variant of TLR7 (Toll-like receptor 7)
P82L (p.Pro82Leu) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- rs2518437192
- ClinGen CA412404389
- ClinVar RCV004121507
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.94
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available