N39D (p.Asn39Asp) variant of PSEN1 (Presenilin-1)
N39D (p.Asn39Asp) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- gnomAD 14-73160045-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 6.99
- Population evidence available
- Structural context available
- Literature evidence available