D50G (p.Asp50Gly) variant of IKZF1 (DNA-binding protein Ikaros)
D50G (p.Asp50Gly) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- gnomAD 7-50327746-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available