I91V (p.Ile91Val) variant of SMC3 (Q9UQE7)
I91V (p.Ile91Val) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- TOPMed rs1345184300
- gnomAD rs1345184300
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.80
- PolyPhen-2 0.10
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available