I176V (p.Ile176Val) variant of SMC3 (Q9UQE7)
I176V (p.Ile176Val) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I176V (p.Ile176Val) variant details
- p.Ile176Val
- TOPMed rs1386121584
- gnomAD rs1386121584
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 21.30
- PolyPhen-2 0.10
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available