S59C (p.Ser59Cys) variant of PSEN1 (Presenilin-1)
S59C (p.Ser59Cys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S59C (p.Ser59Cys) variant details
- p.Ser59Cys
- TOPMed rs986331634
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.44
- CADD 16.90
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available