P6T (p.Pro6Thr) variant of DDX41 (Q9UJV9)
P6T (p.Pro6Thr) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes published literature and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- rs2532092429
- ClinGen CA362378176
- ClinVar RCV003852268
- ClinVar RCV005545136
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)