Y10C (p.Tyr10Cys) variant of PSEN1 (Presenilin-1)
Y10C (p.Tyr10Cys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Y10C (p.Tyr10Cys) variant details
- p.Tyr10Cys
- gnomAD 14-73148048-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.59
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available