T69A (p.Thr69Ala) variant of SMC3 (Q9UQE7)
T69A (p.Thr69Ala) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T69A (p.Thr69Ala) variant details
- p.Thr69Ala
- Ensembl rs2134718741
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.32
- ESM-1b 0.75
- AlphaMissense 0.74
- CADD 24.00
- PolyPhen-2 0.51
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available