G13E (p.Gly13Glu) variant of NCSTN (Nicastrin)
G13E (p.Gly13Glu) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- gnomAD 1-160343434-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.40
- PolyPhen-2 0.19
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available