G29G (p.Gly29Gly) variant of NCSTN (Nicastrin)
G29G (p.Gly29Gly) in NCSTN (Nicastrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G29G (p.Gly29Gly) variant details
- p.Gly29Gly
- rs757105967
- gnomAD 1-160344723-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 16.40
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available