L98F (p.Leu98Phe) variant of ATRX (Chromatin remodeler ATRX)
L98F (p.Leu98Phe) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L98F (p.Leu98Phe) variant details
- p.Leu98Phe
- 1000Genomes rs782388395
- ExAC rs782388395
- gnomAD rs782388395
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.30
- Most common in the 1KG:GIH population (allele frequency 0.0069)
- Structural context available