P78L (p.Pro78Leu) variant of DDX41 (Q9UJV9)
P78L (p.Pro78Leu) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- cosmic curated COSV57902
- ExAC rs766355942
- gnomAD rs766355942
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available