E151K (p.Glu151Lys) variant of VIM (Vimentin)
E151K (p.Glu151Lys) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cataract 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E151K (p.Glu151Lys) variant details
- p.Glu151Lys
- rs121917775
- ClinGen CA214748
- ClinVar RCV000012983
- ClinVar RCV000056967
- Pathogenic
- Cataract 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.86
- CADD 25.00
- PolyPhen-2 0.26
- SIFT 0.06
- ClinVar: Pathogenic (Cataract 30)
- EBI: Pathogenic (in CTRCT30)
- UniProt: Pathogenic (in CTRCT30)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Dominant cataract formation in association with a vimentin assembly disrupting mutation. (PMID 19126778)
- Cited in: Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. (PMID 26694549)