I64T (p.Ile64Thr) variant of SYNGAP1 (Q96PV0)
I64T (p.Ile64Thr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I64T (p.Ile64Thr) variant details
- p.Ile64Thr
- gnomAD 6-33425799-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- MetaLR 0.02
- MetaSVM -1.03
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available