F21Y (p.Phe21Tyr) variant of SYNGAP1 (Q96PV0)
F21Y (p.Phe21Tyr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F21Y (p.Phe21Tyr) variant details
- p.Phe21Tyr
- gnomAD 6-33420326-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 19.40
- PolyPhen-2 0.15
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available