G54V (p.Gly54Val) variant of STAG2 (Cohesin subunit SA-2)
G54V (p.Gly54Val) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- cosmic curated COSV54375
- TOPMed rs1205210487
- gnomAD rs1205210487
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.07
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available