K48R (p.Lys48Arg) variant of STAG2 (Cohesin subunit SA-2)
K48R (p.Lys48Arg) 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 0.32 / 1. The record also includes population frequency data and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- rs745799850
- ClinGen CA10508563
- ClinVar RCV002601444
- ExAC rs745799850
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available