L14I (p.Leu14Ile) variant of STAG2 (Cohesin subunit SA-2)
L14I (p.Leu14Ile) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- gnomAD X-124022667-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available