Y10S (p.Tyr10Ser) variant of PSEN1 (Presenilin-1)
Y10S (p.Tyr10Ser) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Y10S (p.Tyr10Ser) variant details
- p.Tyr10Ser
- gnomAD 14-73148048-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.53
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available