S20R (p.Ser20Arg) variant of CHAMP1 (Q96JM3)
S20R (p.Ser20Arg) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- TOPMed rs2087203621
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- ESM-1b 0.43
- AlphaMissense 0.23
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available