L14R (p.Leu14Arg) variant of STAG2 (Cohesin subunit SA-2)
L14R (p.Leu14Arg) 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.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD X-124022668-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.09
- CADD 20.10
- PolyPhen-2 0.15
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available