L30I (p.Leu30Ile) variant of NCSTN (Nicastrin)
L30I (p.Leu30Ile) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- gnomAD 1-160343706-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.56
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available