L30I (p.Leu30Ile) variant of IDH1 (O75874)
L30I (p.Leu30Ile) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- gnomAD rs1478965604
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available