E126K (p.Glu126Lys) variant of ABCC9 (O60706)
E126K (p.Glu126Lys) in ABCC9 (O60706) 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 0.86 / 1. The record also includes population frequency data and structural context.
E126K (p.Glu126Lys) variant details
- p.Glu126Lys
- rs1212315529
- NCI-TCGA Cosmic COSV5396
- cosmic curated COSV53966
- TOPMed rs1212315529
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.90
- CADD 28.90
- PolyPhen-2 0.86
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available