R48R (p.Arg48Arg) variant of PSEN2 (Presenilin-2)
R48R (p.Arg48Arg) in PSEN2 (Presenilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- gnomAD 1-226883707-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 16.10
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available