A68V (p.Ala68Val) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A68V (p.Ala68Val) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs1250603833
- ClinGen CA412764875
- NCI-TCGA Cosmic COSV6786
- cosmic curated COSV67863
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.27
- MetaSVM -0.65
- CADD 22.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available