N24S (p.Asn24Ser) variant of PSEN1 (Presenilin-1)
N24S (p.Asn24Ser) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- ExAC rs200598249
- TOPMed rs200598249
- gnomAD rs200598249
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.44
- CADD 7.96
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available