A3S (p.Ala3Ser) variant of IKZF1 (DNA-binding protein Ikaros)
A3S (p.Ala3Ser) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 7-50319068-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.06
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available