N32N (p.Asn32Asn) variant of PSEN1 (Presenilin-1)
N32N (p.Asn32Asn) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
N32N (p.Asn32Asn) variant details
- p.Asn32Asn
- rs201759335
- gnomAD 14-73170805-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.82
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available