E64K (p.Glu64Lys) variant of LDB3 (LIM domain-binding protein 3)
E64K (p.Glu64Lys) in LDB3 (LIM domain-binding protein 3) 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 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- NCI-TCGA Cosmic COSV5394
- cosmic curated COSV53949
- TOPMed rs1844991080
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.12