E37K (p.Glu37Lys) variant of NCSTN (Nicastrin)
E37K (p.Glu37Lys) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs1288425759
- gnomAD 1-160343721-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.01
- CADD 7.60
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available