L30M (p.Leu30Met) variant of NCSTN (Nicastrin)
L30M (p.Leu30Met) 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.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- gnomAD 1-160343712-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- CADD 8.28
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available