R32R (p.Arg32Arg) variant of NCSTN (Nicastrin)
R32R (p.Arg32Arg) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R32R (p.Arg32Arg) variant details
- p.Arg32Arg
- rs1327797915
- gnomAD 1-160344732-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 9.42
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Literature evidence available