T366M (p.Thr366Met) variant of SMC1A (Q14683)
T366M (p.Thr366Met) in SMC1A (Q14683) 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.
T366M (p.Thr366Met) variant details
- p.Thr366Met
- Ensembl rs937651485
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.34
- MetaSVM -0.38
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available