R10K (p.Arg10Lys) variant of TLR7 (Toll-like receptor 7)
R10K (p.Arg10Lys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- rs2518437016
- ClinGen CA412403696
- ClinVar RCV003024288
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.02
- CADD 4.05
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available