K140E (p.Lys140Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
K140E (p.Lys140Glu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K140E (p.Lys140Glu) variant details
- p.Lys140Glu
- ESP rs377409636
- ExAC rs377409636
- TOPMed rs377409636
- gnomAD rs377409636
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.31
- CADD 26.70
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available