H38del (p.His38del) variant of PSEN1 (Presenilin-1)
H38del (p.His38del) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H38del (p.His38del) variant details
- gnomAD 14-73170820-GCAC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 10.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available