Q55P (p.Gln55Pro) variant of SYNGAP1 (Q96PV0)
Q55P (p.Gln55Pro) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q55P (p.Gln55Pro) variant details
- p.Gln55Pro
- gnomAD 6-33423573-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- MetaLR 0.06
- MetaSVM -1.12
- CADD 25.50
- PolyPhen-2 0.48
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available