S9N (p.Ser9Asn) variant of PSEN2 (Presenilin-2)
S9N (p.Ser9Asn) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- cosmic curated COSV60917
- ExAC rs200878942
- TOPMed rs200878942
- gnomAD rs200878942
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.49
- CADD 26.10
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available