I40L (p.Ile40Leu) variant of NCSTN (Nicastrin)
I40L (p.Ile40Leu) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I40L (p.Ile40Leu) variant details
- p.Ile40Leu
- gnomAD rs1481562762
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 27.20
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available