S43N (p.Ser43Asn) variant of PSEN1 (Presenilin-1)
S43N (p.Ser43Asn) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- TOPMed rs1897866089
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.53
- CADD 8.84
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available