R10R (p.Arg10Arg) variant of SYNGAP1 (Q96PV0)
R10R (p.Arg10Arg) in SYNGAP1 (Q96PV0) is a synonymous 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.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- rs1167492483
- gnomAD 6-33420292-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 15.40
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available