p.Gly7 Ala10del variant of NCSTN (Nicastrin)
p.Gly7 Ala10del in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly7 Ala10del variant details
- gnomAD 1-160343413-GTGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 16.10
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available