I143S (p.Ile143Ser) variant of SMC1A (Q14683)
I143S (p.Ile143Ser) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
I143S (p.Ile143Ser) variant details
- p.Ile143Ser
- rs2146605688
- ClinGen CA413259563
- ClinVar RCV001942558
- Ensembl rs2146605688
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)