L13I (p.Leu13Ile) variant of STAG2 (Cohesin subunit SA-2)
L13I (p.Leu13Ile) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99494
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.04
- CADD 16.90
- PolyPhen-2 0.04
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available