A6S (p.Ala6Ser) variant of SYNGAP1 (Q96PV0)
A6S (p.Ala6Ser) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 6-33420280-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available