C50S (p.Cys50Ser) variant of NCSTN (Nicastrin)
C50S (p.Cys50Ser) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
C50S (p.Cys50Ser) variant details
- p.Cys50Ser
- gnomAD 1-160343742-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0665
- REVEL 0.05
- CADD 6.08
- SIFT 0.03
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Literature evidence available