L159V (p.Leu159Val) variant of SMC3 (Q9UQE7)
L159V (p.Leu159Val) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L159V (p.Leu159Val) variant details
- p.Leu159Val
- gnomAD rs1188423288
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 23.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available