G7C (p.Gly7Cys) variant of NCSTN (Nicastrin)
G7C (p.Gly7Cys) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- ExAC rs773067948
- gnomAD rs773067948
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available