A51G (p.Ala51Gly) variant of STAG2 (Cohesin subunit SA-2)
A51G (p.Ala51Gly) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A51G (p.Ala51Gly) variant details
- p.Ala51Gly
- rs1436980550
- ClinGen CA414272222
- ClinVar RCV003726383
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available