N52N (p.Asn52Asn) variant of PSEN1 (Presenilin-1)
N52N (p.Asn52Asn) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N52N (p.Asn52Asn) variant details
- p.Asn52Asn
- gnomAD 14-73170865-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 12.60
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available