K55R (p.Lys55Arg) variant of STAG2 (Cohesin subunit SA-2)
K55R (p.Lys55Arg) 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 0.36 / 1. The record also includes population frequency data and structural context.
K55R (p.Lys55Arg) variant details
- p.Lys55Arg
- rs537432586
- ClinGen CA335276892
- cosmic curated COSV10608
- ClinVar RCV002006820
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.065)
- Structural context available