G29C (p.Gly29Cys) variant of NCSTN (Nicastrin)
G29C (p.Gly29Cys) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G29C (p.Gly29Cys) variant details
- p.Gly29Cys
- gnomAD 1-160343481-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.53
- ESM-1b 0.03
- AlphaMissense 0.15
- CADD 36.00
- PolyPhen-2 0.86
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available