K46E (p.Lys46Glu) variant of CRB1 (Protein crumbs homolog 1)
K46E (p.Lys46Glu) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- gnomAD rs1658652034
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- MetaLR 0.55
- MetaSVM -0.53
- CADD 5.93
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available