R27P (p.Arg27Pro) variant of PSEN1 (Presenilin-1)
R27P (p.Arg27Pro) 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.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- gnomAD 14-73148099-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.58
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available