A48V (p.Ala48Val) variant of NCSTN (Nicastrin)
A48V (p.Ala48Val) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- TOPMed rs1648366091
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- ESM-1b 0.85
- AlphaMissense 0.23
- Structural context available