A48D (p.Ala48Asp) variant of NCSTN (Nicastrin)
A48D (p.Ala48Asp) in NCSTN (Nicastrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- ESM-1b 1.00
- AlphaMissense 0.84
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available