S23N (p.Ser23Asn) variant of PSEN1 (Presenilin-1)
S23N (p.Ser23Asn) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S23N (p.Ser23Asn) variant details
- p.Ser23Asn
- 1000Genomes rs568497767
- ExAC rs568497767
- gnomAD rs568497767
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.47
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available