S7N (p.Ser7Asn) variant of SMARCB1 (Q12824)
S7N (p.Ser7Asn) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- rs1928042033
- ClinGen CA410930495
- ClinVar RCV001340833
- ClinVar RCV005493019
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.43
- MetaLR 0.69
- MetaSVM 0.35
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -1.12
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)