L14P (p.Leu14Pro) variant of STAG2 (Cohesin subunit SA-2)
L14P (p.Leu14Pro) in STAG2 (Cohesin subunit SA-2) is a missense 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.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD X-124022668-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available