K41K (p.Lys41Lys) variant of STAG2 (Cohesin subunit SA-2)
K41K (p.Lys41Lys) in STAG2 (Cohesin subunit SA-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K41K (p.Lys41Lys) variant details
- p.Lys41Lys
- gnomAD X-124025918-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available