R42del (p.Arg42del) variant of PSEN1 (Presenilin-1)
R42del (p.Arg42del) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R42del (p.Arg42del) variant details
- gnomAD 14-73170830-AGAC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 15.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available