S7P (p.Ser7Pro) variant of SYNGAP1 (Q96PV0)
S7P (p.Ser7Pro) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- gnomAD 6-33420283-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available