N76S (p.Asn76Ser) variant of SMC1A (Q14683)
N76S (p.Asn76Ser) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- rs200243549
- ClinGen CA10420694
- cosmic curated COSV10962
- ClinVar RCV000687190
- Likely benign
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.08
- MetaSVM -1.03
- CADD 20.60
- ClinVar: Likely benign (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.7e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)