S43R (p.Ser43Arg) variant of PSEN1 (Presenilin-1)
S43R (p.Ser43Arg) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- TOPMed rs1594997980
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.55
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available