V53M (p.Val53Met) variant of IKZF1 (DNA-binding protein Ikaros)
V53M (p.Val53Met) 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.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs369417059
- ClinGen CA4261215
- cosmic curated COSV58783
- ClinVar RCV001819257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- CADD 7.67
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.0021)
- Structural context available