R33G (p.Arg33Gly) variant of PSEN1 (Presenilin-1)
R33G (p.Arg33Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- TOPMed rs1897862584
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.53
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available