R35R (p.Arg35Arg) variant of PSEN2 (Presenilin-2)
R35R (p.Arg35Arg) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R35R (p.Arg35Arg) variant details
- p.Arg35Arg
- rs1335789538
- gnomAD 1-226882010-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.70
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available