T69I (p.Thr69Ile) variant of SMC3 (Q9UQE7)
T69I (p.Thr69Ile) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
T69I (p.Thr69Ile) variant details
- p.Thr69Ile
- gnomAD 10-110577428-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available