S25C (p.Ser25Cys) variant of PSEN2 (Presenilin-2)
S25C (p.Ser25Cys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S25C (p.Ser25Cys) variant details
- p.Ser25Cys
- gnomAD 1-226881980-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.55
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available