S49N (p.Ser49Asn) variant of IKZF1 (DNA-binding protein Ikaros)
S49N (p.Ser49Asn) 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 0.12 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- rs1255711584
- ClinGen CA367569508
- ClinVar RCV003674650
- gnomAD rs1255711584
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.04
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available