D774N (p.Asp774Asn) variant of SMC1A (Q14683)
D774N (p.Asp774Asn) 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 0.79 / 1. The record also includes published literature and structural context.
D774N (p.Asp774Asn) variant details
- p.Asp774Asn
- rs2075680329
- ClinGen CA413251124
- ClinVar RCV001170013
- Ensembl rs2075680329
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)