L43S (p.Leu43Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
L43S (p.Leu43Ser) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L43S (p.Leu43Ser) variant details
- p.Leu43Ser
- cosmic curated COSV10751
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available