E112K (p.Glu112Lys) variant of PLAT (P00750)
E112K (p.Glu112Lys) in PLAT (P00750) 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 0.33 / 1. The record also includes population frequency data and structural context.
E112K (p.Glu112Lys) variant details
- p.Glu112Lys
- rs1055213581
- NCI-TCGA Cosmic COSV5427
- cosmic curated COSV54274
- TOPMed rs1055213581
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.24
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available