S2G (p.Ser2Gly) variant of SYNGAP1 (Q96PV0)
S2G (p.Ser2Gly) 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.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- gnomAD 6-33420268-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available