M31V (p.Met31Val) variant of IKZF1 (DNA-binding protein Ikaros)
M31V (p.Met31Val) 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 0.43 / 1. The record also includes population frequency data and structural context.
M31V (p.Met31Val) variant details
- p.Met31Val
- rs375037109
- ClinGen CA4261203
- ClinVar RCV003074935
- ESP rs375037109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.87
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available