N239S (p.Asn239Ser) variant of SMC1A (Q14683)
N239S (p.Asn239Ser) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 85, with or without midline brain de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N239S (p.Asn239Ser) variant details
- p.Asn239Ser
- rs782172948
- ClinGen CA10420644
- ClinVar RCV001986144
- ClinVar RCV003448444
- Uncertain significance
- Developmental and epileptic encephalopathy, 85, with or without midline brain de
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.10
- CADD 17.70
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 85, with or without)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)