D23Y (p.Asp23Tyr) variant of SYNGAP1 (Q96PV0)
D23Y (p.Asp23Tyr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D23Y (p.Asp23Tyr) variant details
- p.Asp23Tyr
- gnomAD 6-33420331-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 36.00
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available