S189T (p.Ser189Thr) variant of RAD21 (O60216)
S189T (p.Ser189Thr) in RAD21 (O60216) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S189T (p.Ser189Thr) variant details
- p.Ser189Thr
- ExAC rs778115340
- TOPMed rs778115340
- gnomAD rs778115340
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.27
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)