G7W (p.Gly7Trp) variant of NCSTN (Nicastrin)
G7W (p.Gly7Trp) in NCSTN (Nicastrin) is a protein-truncating 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.
G7W (p.Gly7Trp) variant details
- p.Gly7Trp
- rs1266104510
- gnomAD 1-160343408-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available