K47Q (p.Lys47Gln) variant of STAG2 (Cohesin subunit SA-2)
K47Q (p.Lys47Gln) in STAG2 (Cohesin subunit SA-2) 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 0.31 / 1. The record also includes population frequency data and structural context.
K47Q (p.Lys47Gln) variant details
- p.Lys47Gln
- gnomAD rs1348108191
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.12
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available