A19V (p.Ala19Val) variant of SYNGAP1 (Q96PV0)
A19V (p.Ala19Val) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 6-33420320-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.95
- Population evidence available
- Structural context available
- Literature evidence available