S138G (p.Ser138Gly) variant of RAD21 (O60216)
S138G (p.Ser138Gly) in RAD21 (O60216) 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 0.36 / 1. The record also includes population frequency data.
S138G (p.Ser138Gly) variant details
- p.Ser138Gly
- TOPMed rs1269660025
- gnomAD rs1269660025
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.18
- CADD 24.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)