I45V (p.Ile45Val) variant of SMC3 (Q9UQE7)
I45V (p.Ile45Val) in SMC3 (Q9UQE7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- rs1488636661
- NCI-TCGA Cosmic COSV6242
- gnomAD rs1488636661
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 31.00
- PolyPhen-2 0.80
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available