Q55Q (p.Gln55Gln) variant of SYNGAP1 (Q96PV0)
Q55Q (p.Gln55Gln) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q55Q (p.Gln55Gln) variant details
- p.Gln55Gln
- rs1776864362
- gnomAD 6-33423574-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 11.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available