p.Arg41 Arg42insHisArg variant of PSEN1 (Presenilin-1)
p.Arg41 Arg42insHisArg in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg41 Arg42insHisArg variant details
- rs1897864360
- gnomAD 14-73170827-G-GAC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available