S66C (p.Ser66Cys) variant of PSEN2 (Presenilin-2)
S66C (p.Ser66Cys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S66C (p.Ser66Cys) variant details
- p.Ser66Cys
- ExAC rs753871802
- TOPMed rs753871802
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.39
- CADD 19.60
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available