H46H (p.His46His) variant of PSEN1 (Presenilin-1)
H46H (p.His46His) 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.
H46H (p.His46His) variant details
- p.His46His
- rs116882898
- gnomAD 14-73170847-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 7.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available