S17P (p.Ser17Pro) variant of PSEN1 (Presenilin-1)
S17P (p.Ser17Pro) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- gnomAD 14-73148068-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.61
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available