V53L (p.Val53Leu) variant of IKZF1 (DNA-binding protein Ikaros)
V53L (p.Val53Leu) in IKZF1 (DNA-binding protein Ikaros) 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 0.11 / 1. The record also includes population frequency data and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- ESP rs369417059
- ExAC rs369417059
- TOPMed rs369417059
- gnomAD rs369417059
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.03
- CADD 2.89
- PolyPhen-2 0.00
- SIFT 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available