G6G (p.Gly6Gly) variant of NCSTN (Nicastrin)
G6G (p.Gly6Gly) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G6G (p.Gly6Gly) variant details
- p.Gly6Gly
- rs201989234
- gnomAD 1-160343414-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 13.60
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Literature evidence available