D62N (p.Asp62Asn) variant of SYNGAP1 (Q96PV0)
D62N (p.Asp62Asn) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- gnomAD rs1776864940
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.93
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available