L27I (p.Leu27Ile) variant of NCSTN (Nicastrin)
L27I (p.Leu27Ile) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- gnomAD 1-160343475-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- ESM-1b 0.55
- AlphaMissense 0.09
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available