C24S (p.Cys24Ser) variant of NCSTN (Nicastrin)
C24S (p.Cys24Ser) 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 population frequency data, published literature, and structural context.
C24S (p.Cys24Ser) variant details
- p.Cys24Ser
- gnomAD 1-160343467-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available