E100K (p.Glu100Lys) variant of ALDOB (Fructose-bisphosphate aldolase B)
E100K (p.Glu100Lys) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- rs867022678
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66397
- Ensembl rs867022678
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.18
- MetaLR 0.36
- MetaSVM -0.55
- PolyPhen-2 0.00
- SIFT 0.60
- EVE 0.09
- UniProt: Variant assessed as somatic; moderate impact.