S25N (p.Ser25Asn) variant of PSEN2 (Presenilin-2)
S25N (p.Ser25Asn) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S25N (p.Ser25Asn) variant details
- p.Ser25Asn
- gnomAD rs1661025159
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.50
- CADD 16.70
- PolyPhen-2 0.02
- SIFT 0.53
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available