N39S (p.Asn39Ser) variant of PSEN1 (Presenilin-1)
N39S (p.Asn39Ser) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- gnomAD 14-73160046-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 7.45
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available