V112E (p.Val112Glu) variant of GABRB3 (P28472)
V112E (p.Val112Glu) in GABRB3 (P28472) 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 0.52 / 1. The record also includes structural context.
V112E (p.Val112Glu) variant details
- p.Val112Glu
- rs1057524381
- ClinGen CA16606904
- ClinVar RCV000434227
- Ensembl rs1057524381
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available