S28N (p.Ser28Asn) variant of PSEN1 (Presenilin-1)
S28N (p.Ser28Asn) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD 14-73148102-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.42
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available