S85C (p.Ser85Cys) variant of SMC1A (Q14683)
S85C (p.Ser85Cys) 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; Developmental and epileptic e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S85C (p.Ser85Cys) variant details
- p.Ser85Cys
- TOPMed rs918387605
- gnomAD rs918387605
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.95
- CADD 21.40
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available