K46E (p.Lys46Glu) variant of NCSTN (Nicastrin)
K46E (p.Lys46Glu) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- gnomAD 1-160344772-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available