K27Q (p.Lys27Gln) variant of IDH1 (O75874)
K27Q (p.Lys27Gln) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
K27Q (p.Lys27Gln) variant details
- p.Lys27Gln
- gnomAD rs1173024019
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.78
- CADD 27.20
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available