G23S (p.Gly23Ser) variant of CHAMP1 (Q96JM3)
G23S (p.Gly23Ser) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs2503196132
- ClinGen CA388844938
- ClinVar RCV002471250
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- ESM-1b 0.00
- AlphaMissense 0.55
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available