N20S (p.Asn20Ser) variant of PSEN1 (Presenilin-1)
N20S (p.Asn20Ser) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- gnomAD rs1231923457
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.41
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available