Y63S (p.Tyr63Ser) variant of PSEN2 (Presenilin-2)
Y63S (p.Tyr63Ser) in PSEN2 (Presenilin-2) 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.
Y63S (p.Tyr63Ser) variant details
- p.Tyr63Ser
- gnomAD 1-226883751-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.61
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available