E60K (p.Glu60Lys) variant of NOTCH2 (Q04721)
E60K (p.Glu60Lys) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- gnomAD rs1553206175
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.82
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available