R33L (p.Arg33Leu) variant of PSEN1 (Presenilin-1)
R33L (p.Arg33Leu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- gnomAD 14-73160013-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.85
- Population evidence available
- Structural context available
- Literature evidence available