A19P (p.Ala19Pro) variant of SYNGAP1 (Q96PV0)
A19P (p.Ala19Pro) 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.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD 6-33420319-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available