A15S (p.Ala15Ser) variant of SYNGAP1 (Q96PV0)
A15S (p.Ala15Ser) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 6-33420307-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.88
- Population evidence available
- Structural context available
- Literature evidence available