T28P (p.Thr28Pro) variant of SMC1A (Q14683)
T28P (p.Thr28Pro) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
T28P (p.Thr28Pro) variant details
- p.Thr28Pro
- rs34530151
- UniProt VAR 052438
- Ensembl rs34530151
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- Structural context available