G43A (p.Gly43Ala) variant of SYNGAP1 (Q96PV0)
G43A (p.Gly43Ala) in SYNGAP1 (Q96PV0) is a missense 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.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- gnomAD 6-33423537-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- MetaLR 0.01
- MetaSVM -1.00
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available