S41L (p.Ser41Leu) variant of IKZF1 (DNA-binding protein Ikaros)
S41L (p.Ser41Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
S41L (p.Ser41Leu) variant details
- p.Ser41Leu
- rs751092583
- ClinGen CA4261210
- cosmic curated COSV58783
- ClinVar RCV001768040
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.13
- CADD 24.20
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available