E102K (p.Glu102Lys) variant of PKLR (Pyruvate kinase PKLR)
E102K (p.Glu102Lys) in PKLR (Pyruvate kinase PKLR) 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 0.75 / 1. The record also includes population frequency data and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.75
- CADD 25.10
- PolyPhen-2 0.32
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available