P67L (p.Pro67Leu) variant of STAG2 (Cohesin subunit SA-2)
P67L (p.Pro67Leu) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- cosmic curated COSV54355
- Ensembl rs2057317373
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.08
- CADD 19.50
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available