H9H (p.His9His) variant of SYNGAP1 (Q96PV0)
H9H (p.His9His) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H9H (p.His9His) variant details
- p.His9His
- gnomAD 6-33420291-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- Literature evidence available