M31R (p.Met31Arg) variant of IKZF1 (DNA-binding protein Ikaros)
M31R (p.Met31Arg) in IKZF1 (DNA-binding protein Ikaros) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M31R (p.Met31Arg) variant details
- p.Met31Arg
- gnomAD 7-50327689-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.27
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available