R60R (p.Arg60Arg) variant of PSEN1 (Presenilin-1)
R60R (p.Arg60Arg) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R60R (p.Arg60Arg) variant details
- p.Arg60Arg
- gnomAD 14-73170887-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 4.66
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available