N52N (p.Asn52Asn) variant of PSEN2 (Presenilin-2)
N52N (p.Asn52Asn) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N52N (p.Asn52Asn) variant details
- p.Asn52Asn
- rs749675208
- gnomAD 1-226883719-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.91
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available