S51C (p.Ser51Cys) variant of PSEN1 (Presenilin-1)
S51C (p.Ser51Cys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- TOPMed rs1475323603
- gnomAD rs1475323603
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available