E38K (p.Glu38Lys) variant of NOTCH2 (Q04721)
E38K (p.Glu38Lys) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- rs61788901
- ClinGen CA1040937
- ClinVar RCV001528862
- ClinVar RCV004714258
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.07
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available