V101I (p.Val101Ile) variant of SMC3 (Q9UQE7)
V101I (p.Val101Ile) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V101I (p.Val101Ile) variant details
- p.Val101Ile
- gnomAD rs1407886381
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.00
- PolyPhen-2 0.63
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available