I30V (p.Ile30Val) variant of SMC1A (Q14683)
I30V (p.Ile30Val) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- rs1330260800
- ClinGen CA413134840
- ClinVar RCV003988514
- TOPMed rs1330260800
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.71
- MetaSVM -0.01
- CADD 23.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available