A19D (p.Ala19Asp) variant of SYNGAP1 (Q96PV0)
A19D (p.Ala19Asp) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 6-33420320-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 21.70
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available