R41R (p.Arg41Arg) variant of PSEN1 (Presenilin-1)
R41R (p.Arg41Arg) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R41R (p.Arg41Arg) variant details
- p.Arg41Arg
- rs1258736994
- gnomAD 14-73170830-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 7.62
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available