L18P (p.Leu18Pro) variant of NCSTN (Nicastrin)
L18P (p.Leu18Pro) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 1-160343449-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 31.00
- PolyPhen-2 0.89
- SIFT 0.04
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Literature evidence available