H65Q (p.His65Gln) variant of SYNGAP1 (Q96PV0)
H65Q (p.His65Gln) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H65Q (p.His65Gln) variant details
- p.His65Gln
- TOPMed rs1247019500
- gnomAD rs1247019500
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 15.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available