R13S (p.Arg13Ser) variant of CHAMP1 (Q96JM3)
R13S (p.Arg13Ser) in CHAMP1 (Q96JM3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- ESP rs201268340
- ExAC rs201268340
- TOPMed rs201268340
- gnomAD rs201268340
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available