A6A (p.Ala6Ala) variant of SYNGAP1 (Q96PV0)
A6A (p.Ala6Ala) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- gnomAD 6-33420282-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available