K47R (p.Lys47Arg) variant of STAG2 (Cohesin subunit SA-2)
K47R (p.Lys47Arg) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD X-124030977-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.12
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available