P38R (p.Pro38Arg) variant of DDX41 (Q9UJV9)
P38R (p.Pro38Arg) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- rs11555633
- ClinGen CA3585375
- ClinVar RCV002971253
- ClinVar RCV004572481
- Uncertain significance
- DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.38
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (DDX41-related hematologic malignancy predisposition syndrome; In)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 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)