P49A (p.Pro49Ala) variant of TLR4 (Toll-like receptor 4)
P49A (p.Pro49Ala) in TLR4 (Toll-like receptor 4) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- ExAC rs775401427
- gnomAD rs775401427
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available