H9R (p.His9Arg) variant of SYNGAP1 (Q96PV0)
H9R (p.His9Arg) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H9R (p.His9Arg) variant details
- p.His9Arg
- gnomAD 6-33420290-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available