P20H (p.Pro20His) variant of SYNGAP1 (Q96PV0)
P20H (p.Pro20His) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P20H (p.Pro20His) variant details
- p.Pro20His
- gnomAD 6-33420323-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 23.10
- PolyPhen-2 0.89
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available