A51V (p.Ala51Val) variant of STAG2 (Cohesin subunit SA-2)
A51V (p.Ala51Val) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- gnomAD rs1436980550
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.06
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available