N12S (p.Asn12Ser) variant of STAG2 (Cohesin subunit SA-2)
N12S (p.Asn12Ser) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.21 / 1. The record also includes population frequency data and structural context.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- rs899950130
- ClinGen CA335276268
- ClinVar RCV002601608
- TOPMed rs899950130
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.07
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available