R33R (p.Arg33Arg) variant of PSEN1 (Presenilin-1)
R33R (p.Arg33Arg) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R33R (p.Arg33Arg) variant details
- p.Arg33Arg
- gnomAD 14-73160012-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0846
- CADD 0.72
- Population evidence available
- Structural context available
- Literature evidence available