R52R (p.Arg52Arg) variant of NCSTN (Nicastrin)
R52R (p.Arg52Arg) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R52R (p.Arg52Arg) variant details
- p.Arg52Arg
- rs760678242
- gnomAD 1-160344792-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 7.37
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available