P41L (p.Pro41Leu) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
P41L (p.Pro41Leu) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- cosmic curated COSV67864
- gnomAD rs1341824034
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available