I128T (p.Ile128Thr) variant of SMC1A (Q14683)
I128T (p.Ile128Thr) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I128T (p.Ile128Thr) variant details
- p.Ile128Thr
- Ensembl rs781895092
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.17
- MetaSVM -0.90
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available