K41R (p.Lys41Arg) variant of STAG2 (Cohesin subunit SA-2)
K41R (p.Lys41Arg) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- gnomAD X-124025917-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available