L14P (p.Leu14Pro) variant of TLR3 (Toll-like receptor 3)
L14P (p.Leu14Pro) in TLR3 (Toll-like receptor 3) 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 0.37 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- ExAC rs746264502
- TOPMed rs746264502
- gnomAD rs746264502
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- MetaLR 0.13
- MetaSVM -0.99
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available