S28R (p.Ser28Arg) variant of PSEN1 (Presenilin-1)
S28R (p.Ser28Arg) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD 14-73148103-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.55
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available