G65D (p.Gly65Asp) variant of SLC6A1 (P30531)
G65D (p.Gly65Asp) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
G65D (p.Gly65Asp) variant details
- p.Gly65Asp
- rs1697197329
- ClinGen CA351788379
- ClinVar RCV002274373
- Ensembl rs1697197329
- Likely pathogenic
- Neurodevelopmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Neurodevelopmental delay)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available