I143V (p.Ile143Val) variant of SMC1A (Q14683)
I143V (p.Ile143Val) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
I143V (p.Ile143Val) variant details
- p.Ile143Val
- TOPMed rs1259197736
- gnomAD rs1259197736
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.25
- MetaSVM -0.58
- CADD 24.40
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available