K62R (p.Lys62Arg) variant of STAG2 (Cohesin subunit SA-2)
K62R (p.Lys62Arg) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K62R (p.Lys62Arg) variant details
- p.Lys62Arg
- gnomAD X-124031022-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.83
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available