N52D (p.Asn52Asp) variant of PSEN2 (Presenilin-2)
N52D (p.Asn52Asp) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- ExAC rs775935657
- gnomAD rs775935657
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.29
- CADD 5.25
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available