N52D (p.Asn52Asp) variant of PSEN1 (Presenilin-1)
N52D (p.Asn52Asp) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- gnomAD rs1181060667
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.55
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available