S47A (p.Ser47Ala) variant of IKZF1 (DNA-binding protein Ikaros)
S47A (p.Ser47Ala) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S47A (p.Ser47Ala) variant details
- p.Ser47Ala
- gnomAD 7-50327736-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.01
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available