C14Y (p.Cys14Tyr) variant of PSEN2 (Presenilin-2)
C14Y (p.Cys14Tyr) 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.
C14Y (p.Cys14Tyr) variant details
- p.Cys14Tyr
- gnomAD 1-226881948-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.46
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available