R5Q (p.Arg5Gln) variant of SYNGAP1 (Q96PV0)
R5Q (p.Arg5Gln) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- gnomAD 6-33420278-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available