K26R (p.Lys26Arg) variant of SMC3 (Q9UQE7)
K26R (p.Lys26Arg) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- gnomAD 10-110568999-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available