C50G (p.Cys50Gly) variant of NCSTN (Nicastrin)
C50G (p.Cys50Gly) 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.
C50G (p.Cys50Gly) variant details
- p.Cys50Gly
- gnomAD 1-160343742-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- REVEL 0.07
- CADD 6.26
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available