P20S (p.Pro20Ser) variant of SYNGAP1 (Q96PV0)
P20S (p.Pro20Ser) 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.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- gnomAD 6-33420322-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 21.70
- PolyPhen-2 0.64
- SIFT 0.90
- Population evidence available
- Structural context available
- Literature evidence available