K130M (p.Lys130Met) variant of DDX41 (Q9UJV9)
K130M (p.Lys130Met) in DDX41 (Q9UJV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K130M (p.Lys130Met) variant details
- p.Lys130Met
- ExAC rs771853983
- TOPMed rs771853983
- gnomAD rs771853983
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.14
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available