Y34S (p.Tyr34Ser) variant of GABRG2 (P18507)
Y34S (p.Tyr34Ser) in GABRG2 (P18507) 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 0.40 / 1. The record also includes structural context.
Y34S (p.Tyr34Ser) variant details
- p.Tyr34Ser
- rs1459935300
- ClinGen CA362181910
- ClinVar RCV003318916
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.47
- PolyPhen-2 0.10
- SIFT 0.13
- MutPred 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available