L44S (p.Leu44Ser) variant of IDH1 (O75874)
L44S (p.Leu44Ser) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L44S (p.Leu44Ser) variant details
- p.Leu44Ser
- Ensembl rs2124864064
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.89
- CADD 29.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available