R15R (p.Arg15Arg) variant of NCSTN (Nicastrin)
R15R (p.Arg15Arg) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R15R (p.Arg15Arg) variant details
- p.Arg15Arg
- rs776870343
- gnomAD 1-160343441-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 13.60
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available