A6T (p.Ala6Thr) variant of SYNGAP1 (Q96PV0)
A6T (p.Ala6Thr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 6-33420280-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available