I13T (p.Ile13Thr) variant of SYNGAP1 (Q96PV0)
I13T (p.Ile13Thr) 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.
I13T (p.Ile13Thr) variant details
- p.Ile13Thr
- gnomAD 6-33420302-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available