H30Q (p.His30Gln) variant of SYNGAP1 (Q96PV0)
H30Q (p.His30Gln) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- gnomAD 6-33423499-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.94
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available