L13P (p.Leu13Pro) variant of STAG2 (Cohesin subunit SA-2)
L13P (p.Leu13Pro) 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.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD X-124022665-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.47
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available