P81S (p.Pro81Ser) variant of DDX41 (Q9UJV9)
P81S (p.Pro81Ser) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- gnomAD rs1178457155
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.16
- SIFT 0.29
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available