N397S (p.Asn397Ser) variant of SMC1A (Q14683)
N397S (p.Asn397Ser) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Congenital muscular hypertrophy-cerebral syndrome; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N397S (p.Asn397Ser) variant details
- p.Asn397Ser
- rs782697006
- ClinGen CA10420591
- ClinVar RCV000499405
- ClinVar RCV000704265
- Uncertain significance
- Inborn genetic diseases; Congenital muscular hypertrophy-cerebral syndrome; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.60
- MetaSVM 0.06
- CADD 22.90
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital muscular hypertrophy-cerebra)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)