E30K (p.Glu30Lys) variant of CRBN (Protein cereblon)
E30K (p.Glu30Lys) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs78564552
- ClinGen CA206506
- ClinVar RCV000193191
- ClinVar RCV000224199
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- Structural context available