H9Y (p.His9Tyr) variant of SYNGAP1 (Q96PV0)
H9Y (p.His9Tyr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H9Y (p.His9Tyr) variant details
- p.His9Tyr
- gnomAD 6-33420289-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available