L44P (p.Leu44Pro) variant of NCSTN (Nicastrin)
L44P (p.Leu44Pro) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- gnomAD 1-160343740-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- CADD 12.10
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available