G7R (p.Gly7Arg) variant of NCSTN (Nicastrin)
G7R (p.Gly7Arg) 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, published literature, and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- gnomAD 1-160343415-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 17.30
- PolyPhen-2 0.08
- SIFT 0.20
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available