S9P (p.Ser9Pro) variant of PSEN1 (Presenilin-1)
S9P (p.Ser9Pro) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- gnomAD 14-73148044-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.56
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available