S28G (p.Ser28Gly) variant of PSEN1 (Presenilin-1)
S28G (p.Ser28Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- gnomAD 14-73148101-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.58
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available