G78A (p.Gly78Ala) variant of SLC6A1 (P30531)
G78A (p.Gly78Ala) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G78A (p.Gly78Ala) variant details
- p.Gly78Ala
- rs1697199338
- ClinGen CA351788469
- ClinVar RCV001266675
- Ensembl rs1697199338
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)