P183L (p.Pro183Leu) variant of TLR9 (Toll-like receptor 9)
P183L (p.Pro183Leu) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P183L (p.Pro183Leu) variant details
- p.Pro183Leu
- ExAC rs780099835
- gnomAD rs780099835
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.28
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0001)
- Structural context available