F777L (p.Phe777Leu) variant of SMC1A (Q14683)
F777L (p.Phe777Leu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
F777L (p.Phe777Leu) variant details
- p.Phe777Leu
- rs1556889236
- ClinGen CA413251102
- ClinVar RCV000624124
- ClinVar RCV004002750
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.42
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Congenital muscular hypertrophy-cerebra)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)