G63R (p.Gly63Arg) variant of SLC6A1 (P30531)
G63R (p.Gly63Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- rs1057523845
- ClinGen CA351788366
- ClinVar RCV001772896
- Ensembl rs1057523845
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available