S17C (p.Ser17Cys) variant of PSEN1 (Presenilin-1)
S17C (p.Ser17Cys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD 14-73148069-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 0.24
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available