A15A (p.Ala15Ala) variant of SYNGAP1 (Q96PV0)
A15A (p.Ala15Ala) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A15A (p.Ala15Ala) variant details
- p.Ala15Ala
- rs1554304262
- gnomAD 6-33420309-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available