P35L (p.Pro35Leu) variant of DDX41 (Q9UJV9)
P35L (p.Pro35Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs984823447
- ClinGen CA132896011
- ClinVar RCV003673284
- ClinVar RCV004574197
- Uncertain significance
- Inborn genetic diseases; DDX41-related hematologic malignancy predisposition syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.27
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; DDX41-related hematologic malignancy pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)