H9N (p.His9Asn) variant of SYNGAP1 (Q96PV0)
H9N (p.His9Asn) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H9N (p.His9Asn) variant details
- p.His9Asn
- gnomAD 6-33420289-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available