S38F (p.Ser38Phe) variant of IKZF1 (DNA-binding protein Ikaros)
S38F (p.Ser38Phe) in IKZF1 (DNA-binding protein Ikaros) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10049
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.29
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available