S66N (p.Ser66Asn) variant of PSEN2 (Presenilin-2)
S66N (p.Ser66Asn) in PSEN2 (Presenilin-2) 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.
S66N (p.Ser66Asn) variant details
- p.Ser66Asn
- ExAC rs754836755
- gnomAD rs754836755
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.38
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available