C50W (p.Cys50Trp) variant of NCSTN (Nicastrin)
C50W (p.Cys50Trp) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
C50W (p.Cys50Trp) variant details
- p.Cys50Trp
- rs1648258865
- gnomAD 1-160343744-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0788
- REVEL 0.03
- CADD 12.90
- SIFT 0.07
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available