P20T (p.Pro20Thr) variant of SYNGAP1 (Q96PV0)
P20T (p.Pro20Thr) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD 6-33420322-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 21.70
- PolyPhen-2 0.64
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available