I80V (p.Ile80Val) variant of SMC3 (Q9UQE7)
I80V (p.Ile80Val) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I80V (p.Ile80Val) variant details
- p.Ile80Val
- Ensembl rs2134718775
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.35
- ESM-1b 0.36
- AlphaMissense 0.16
- CADD 24.20
- PolyPhen-2 0.90
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available