I8T (p.Ile8Thr) variant of SYNGAP1 (Q96PV0)
I8T (p.Ile8Thr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I8T (p.Ile8Thr) variant details
- p.Ile8Thr
- gnomAD 6-33420287-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available