N39H (p.Asn39His) variant of PSEN1 (Presenilin-1)
N39H (p.Asn39His) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N39H (p.Asn39His) variant details
- p.Asn39His
- gnomAD 14-73160045-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available