A128T (p.Ala128Thr) variant of SMC3 (Q9UQE7)
A128T (p.Ala128Thr) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A128T (p.Ala128Thr) variant details
- p.Ala128Thr
- Ensembl rs1860990873
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available