I65V (p.Ile65Val) variant of SMC1A (Q14683)
I65V (p.Ile65Val) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- TOPMed rs1253441028
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- ESM-1b 1.00
- AlphaMissense 0.41
- Structural context available