N39K (p.Asn39Lys) variant of PSEN1 (Presenilin-1)
N39K (p.Asn39Lys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- gnomAD 14-73160047-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 5.32
- Population evidence available
- Structural context available
- Literature evidence available