R29R (p.Arg29Arg) variant of PSEN2 (Presenilin-2)
R29R (p.Arg29Arg) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R29R (p.Arg29Arg) variant details
- p.Arg29Arg
- rs1661027962
- gnomAD 1-226881994-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 4.82
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available