S306Y (p.Ser306Tyr) variant of SMC1A (Q14683)
S306Y (p.Ser306Tyr) 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 0.69 / 1. The record also includes published literature and structural context.
S306Y (p.Ser306Tyr) variant details
- p.Ser306Tyr
- rs2146604807
- ClinGen CA413257890
- ClinVar RCV001977137
- Ensembl rs2146604807
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.54
- MetaSVM 0.19
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance (in CDLS2)
- UniProt: Uncertain significance (in CDLS2)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)