V96I (p.Val96Ile) variant of SMC3 (Q9UQE7)
V96I (p.Val96Ile) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V96I (p.Val96Ile) variant details
- p.Val96Ile
- ExAC rs769145720
- gnomAD rs769145720
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 25.00
- PolyPhen-2 0.86
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available