N39del (p.Asn39del) variant of PSEN1 (Presenilin-1)
N39del (p.Asn39del) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N39del (p.Asn39del) variant details
- gnomAD 14-73170821-CACA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 8.96
- Population evidence available
- Structural context available
- Literature evidence available