V48V (p.Val48Val) variant of SMC3 (Q9UQE7)
V48V (p.Val48Val) in SMC3 (Q9UQE7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V48V (p.Val48Val) variant details
- p.Val48Val
- gnomAD 10-110575349-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 11.50
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available