V31V (p.Val31Val) variant of SMC3 (Q9UQE7)
V31V (p.Val31Val) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V31V (p.Val31Val) variant details
- p.Val31Val
- gnomAD 10-110573708-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available